ENST00000683756.1 AMBRA1

Information
Transcript ID
ENST00000683756.1
Genome
hg19
Position
chr11:46,417,964-46,615,573
Strand
-
CDS length
3,897
Amino acid length
1,299
Gene symbol
AMBRA1
Gene type
protein-coding
Gene description
autophagy and beclin 1 regulator 1
Gene Entrez Gene ID
55626
Variants

Display target variant


Search Word
Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
18 46,417,964 46,419,493
17 46,430,063 46,430,256
16 46,431,826 46,431,918
15 46,439,463 46,439,602
14 46,455,024 46,455,178
13 46,456,399 46,456,587
12 46,465,038 46,465,148
11 46,515,158 46,515,258
10 46,515,674 46,515,754
9 46,529,741 46,529,920
8 46,534,277 46,534,363
7 46,563,495 46,564,948
6 46,565,525 46,565,591
5 46,567,154 46,567,326
4 46,568,663 46,568,846
3 46,569,367 46,569,425
2 46,569,796 46,570,050
1 46,615,378 46,615,573
CDS
Exon number Type Start Stop
18 CDS 46,419,000 46,419,493
17 CDS 46,430,063 46,430,256
16 CDS 46,431,826 46,431,918
15 CDS 46,439,463 46,439,602
14 CDS 46,455,024 46,455,178
13 CDS 46,456,399 46,456,587
12 CDS 46,465,038 46,465,148
11 CDS 46,515,158 46,515,258
10 CDS 46,515,674 46,515,754
9 CDS 46,529,741 46,529,920
8 CDS 46,534,277 46,534,363
7 CDS 46,563,495 46,564,948
6 CDS 46,565,525 46,565,591
5 CDS 46,567,154 46,567,326
4 CDS 46,568,663 46,568,846
3 CDS 46,569,367 46,569,425
2 CDS 46,569,796 46,569,930
Other genome
Genome Chromosome Start End Links
hg38 chr11 46,396,414 46,594,023 Link
CDS sequence
ATGAAGGTTGTCCCAGAAAAGAATGCTGTCCGGATACTCTGGGGGCGAGAACGGGGTGCTCGGGCCATGGGAGCTCAGCGGCTTCTGCAGGAGCTGGTAGAAGATAAAACCCGGTGGATGAAATGGGAGGGCAAGAGAGTAGAACTGCCGGATAGTCCACGCTCTACCTTCTTATTGGCCTTCAGCCCAGACAGGACTCTCTTAGCCTCCACCCATGTGAACCATAATATCTATATTACGGAGGTGAAGACTGGCAAGTGTGTTCATTCCCTGATTGGACACCGCCGTACTCCATGGTGTGTCACTTTTCATCCCACCATCTCAGGCCTTATTGCTTCTGGCTGCCTAGATGGGGAGGTTAGGATTTGGGATTTACACGGTGGCAGTGAAAGCTGGTTCACAGATAGCAACAATGCCATTGCCTCCCTGGCTTTCCACCCTACGGCTCAGCTCCTGCTGATTGCCACTGCCAATGAGATCCACTTCTGGGACTGGAGTCGACGGGAACCCTTTGCTGTGGTGAAGACAGCTAGTGAGATGGAACGGGTCCGTCTGGTGAGATTTGATCCACTTGGACACTACTTACTCACAGCAATTGTTAACCCCTCTAATCAACAGGGTGATGACGAACCAGAGATCCCCATAGATGGAACAGAATTATCCCACTACCGTCAGCGTGCCCTCCTGCAATCACAGCCAGTTCGCCGGACGCCTCTCCTCCACAATTTCCTGCACATGCTGTCCTCCCGCTCTTCTGGCATCCAGGTGGGAGAGCAAAGCACAGTGCAAGATTCTGCTACCCCCTCACCCCCACCGCCTCCCCCTCAGCCCTCCACGGAGCGCCCCAGGACTTCCGCTTACATCAGGCTCCGACAGCGGGTCAGTTACCCCACAGCTGAGTGCTGCCAGCACCTTGGGATCCTGTGCCTTTGCAGCCGCTGCTCTGGCACTCGAGTTCCTTCCCTCTTGCCACACCAGGACAGTGTCCCCCCTGCTTCTGCCAGAGCTACTACCCCTTCCTTTTCTTTTGTACAGACCGAGCCCTTCCATCCCCCGGAGCAGGCCTCGTCAACGCAGCAGGACCAGGGCCTCCTGAACCGGCCGTCTGCCTTCAGTACAGTCCAGAGCAGCACTGCCGGCAACACGCTCCGCAACCTCAGTCTGGGTCCTACCCGCCGCTCTTTGGGAGGGCCTCTGTCTAGCCACCCTTCTAGGTATCACCGAGAAATAGCTCCTGGGTTGACAGGATCTGAGTGGACCCGGACAGTACTCAGTCTGAACTCCCGCTCTGAGGCGGAATCCATGCCCCCGCCCAGAACCAGTGCCTCTTCGGTGAGTTTGCTGTCTGTGCTGAGACAGCAGGAAGGTGGCTCTCAGGCATCTGTGTACACTTCAGCCACAGAAGGGAGGGGTTTTCCGGCATCAGGGTTGGCAACTGAGTCAGATGGAGGGAATGGCTCCAGCCAAAACAACTCGGGCAGCATTCGCCATGAGCTTCAGTGTGACCTGAGACGCTTCTTTCTGGAGTATGACCGGCTTCAGGAGCTGGATCAGAGCCTGAGTGGGGAAGCTCCCCAGACCCAACAGGCCCAGGAAATGCTCAACAATAACATTGAATCTGAGAGGCCAGGCCCTTCCCACCAGCCCACCCCACACAGCAGTGAGAACAACTCCAACCTGTCCCGTGGCCACCTGAATCGCTGTCGTGCTTGCCACAATCTCCTGACCTTCAACAACGATACCCTGCGCTGGGAAAGAACCACACCTAACTACTCCTCTGGCGAGGCTAGTTCCTCTTGGCAGGTCCCCAGCTCCTTTGAGAGTGTGCCATCAAGTGGCAGCCAGTTGCCACCTCTCGAGCGGACTGAGGGCCAAACGCCCAGCTCCAGCAGGCTGGAGTTGAGCAGCTCTGCTAGTCCGCAGGAGGAGAGGACTGTGGGGGTGGCCTTTAACCAGGAGACAGGCCACTGGGAAAGAATTTACACCCAGTCCAGCAGATCTGGAACTGTGTCACAGGAGGCCTTACATCAGGATATGCCTGAGGAGAGCTCTGAGGAGGATTCACTCAGGAGGAGGCTGCTGGAATCTTCCCTCATTTCATTATCCCGTTATGATGGAGCAGGATCCAGAGAGCACCCAATTTACCCAGACCCAGCGAGATTATCTCCTGCTGCATACTACGCCCAGAGGATGATCCAGTATCTCTCACGGAGAGACAGTATTCGCCAGCGCTCCATGCGCTACCAACAGAACCGTCTCCGTTCTTCCACCTCCTCCTCTTCCTCAGACAACCAGGGTCCATCAGTAGAGGGAACCGACTTGGAATTTGAGGACTTTGAGGACAATGGTGACAGATCCAGGCACCGAGCTCCACGCAATGCCCGGATGTCTGCACCTTCGCTTGGACGCTTTGTCCCAAGGCGTTTCTTGCTGCCTGAGTACTTGCCTTATGCTGGGATTTTTCATGAACGTGGACAGCCTGGCTTGGCTACTCACTCTTCTGTTAACAGGGTCCTGGCAGGGGCAGTGATCGGTGATGGACAGTCTGCTGTGGCCAGTAACATTGCCAATACTACCTACCGGCTCCAGTGGTGGGACTTCACTAAGTTTGACCTCCCTGAAATCAGTAATGCTTCCGTGAATGTGCTGGTGCAGAACTGCAAGATCTACAATGATGCCAGCTGTGACATTTCTGCAGATGGCCAGCTCCTGGCAGCTTTCATCCCCAGCAGCCAGAGGGGCTTTCCTGATGAAGGCATCCTGGCAGTGTACTCCCTGGCCCCCCATAACCTGGGCGAAATGCTCTACACCAAGCGATTTGGTCCCAATGCCATTTCGGTGAGCCTGTCCCCAATGGGCAGATATGTAATGGTGGGCTTGGCCTCACGAAGGATCCTGCTGCACCCCTCCACAGAGCACATGGTGGCCCAGGTCTTCAGGCTGCAACAGGCCCATGGTGGAGAGACCTCCATGAGGAGAGTTTTCAACGTCCTTTATCCCATGCCTGCCGACCAGCGGAGACATGTCAGTATCAACTCTGCCCGTTGGCTGCCTGAGCCAGGGCTTGGCTTGGCCTATGGTACTAACAAAGGAGACCTGGTGATCTGCCGACCAGAGGCCTTAAACTCTGGTGTTGAGTACTACTGGGACCAGCTGAACGAGACGGTCTTCACTGTCCATTCCAACAGCAGGAGCAGCGAGCGGCCTGGAACCAGCAGAGCCACATGGAGGACAGACAGAGACATGGGGCTGATGAATGCCATTGGGCTTCAGCCCCGGAACCCTGCCACCTCAGTGACATCTCAGGGCACCCAGACTCTGGCCCTTCAGCTGCAGAATGCCGAAACACAGACTGAGAGGGAGGTGCCGGAGCCAGGGACAGCCGCCTCAGGTCCTGGTGAAGGTGAGGGTTCAGAGTATGGTGCCAGTGGAGAAGATGCGCTCAGCAGGATCCAGAGGCTGATGGCGGAGGGCGGCATGACAGCCGTGGTGCAGCGGGAGCAGAGCACCACCATGGCCTCCATGGGCGGCTTCGGCAACAACATCATCGTCAGCCACCGCATTCACCGCAGCTCTCAGACGGGCACTGAACCTGGTGCCGCCCACACCTCCTCACCCCAGCCCTCCACCTCTCGGGGACTGCTCCCAGAGGCCGGGCAACTGGCAGAGCGAGGCCTAAGCCCCCGGACAGCTTCCTGGGACCAGCCTGGTACCCCTGGGCGGGAGCCAACCCAGCCAACCCTGCCCTCTTCCTCCCCTGTCCCCATTCCTGTTTCCCTTCCCAGCGCTGAGGGACCAACCCTCCACTGCGAGTTGACCAATAACAACCACCTTCTGGATGGTGGCAGCAGCAGGGGGGACGCTGCAGGCCCTAGGGGAGAACCACGGAACAGGTAG
Amino sequence
MKVVPEKNAVRILWGRERGARAMGAQRLLQELVEDKTRWMKWEGKRVELPDSPRSTFLLAFSPDRTLLASTHVNHNIYITEVKTGKCVHSLIGHRRTPWCVTFHPTISGLIASGCLDGEVRIWDLHGGSESWFTDSNNAIASLAFHPTAQLLLIATANEIHFWDWSRREPFAVVKTASEMERVRLVRFDPLGHYLLTAIVNPSNQQGDDEPEIPIDGTELSHYRQRALLQSQPVRRTPLLHNFLHMLSSRSSGIQVGEQSTVQDSATPSPPPPPPQPSTERPRTSAYIRLRQRVSYPTAECCQHLGILCLCSRCSGTRVPSLLPHQDSVPPASARATTPSFSFVQTEPFHPPEQASSTQQDQGLLNRPSAFSTVQSSTAGNTLRNLSLGPTRRSLGGPLSSHPSRYHREIAPGLTGSEWTRTVLSLNSRSEAESMPPPRTSASSVSLLSVLRQQEGGSQASVYTSATEGRGFPASGLATESDGGNGSSQNNSGSIRHELQCDLRRFFLEYDRLQELDQSLSGEAPQTQQAQEMLNNNIESERPGPSHQPTPHSSENNSNLSRGHLNRCRACHNLLTFNNDTLRWERTTPNYSSGEASSSWQVPSSFESVPSSGSQLPPLERTEGQTPSSSRLELSSSASPQEERTVGVAFNQETGHWERIYTQSSRSGTVSQEALHQDMPEESSEEDSLRRRLLESSLISLSRYDGAGSREHPIYPDPARLSPAAYYAQRMIQYLSRRDSIRQRSMRYQQNRLRSSTSSSSSDNQGPSVEGTDLEFEDFEDNGDRSRHRAPRNARMSAPSLGRFVPRRFLLPEYLPYAGIFHERGQPGLATHSSVNRVLAGAVIGDGQSAVASNIANTTYRLQWWDFTKFDLPEISNASVNVLVQNCKIYNDASCDISADGQLLAAFIPSSQRGFPDEGILAVYSLAPHNLGEMLYTKRFGPNAISVSLSPMGRYVMVGLASRRILLHPSTEHMVAQVFRLQQAHGGETSMRRVFNVLYPMPADQRRHVSINSARWLPEPGLGLAYGTNKGDLVICRPEALNSGVEYYWDQLNETVFTVHSNSRSSERPGTSRATWRTDRDMGLMNAIGLQPRNPATSVTSQGTQTLALQLQNAETQTEREVPEPGTAASGPGEGEGSEYGASGEDALSRIQRLMAEGGMTAVVQREQSTTMASMGGFGNNIIVSHRIHRSSQTGTEPGAAHTSSPQPSTSRGLLPEAGQLAERGLSPRTASWDQPGTPGREPTQPTLPSSSPVPIPVSLPSAEGPTLHCELTNNNHLLDGGSSRGDAAGPRGEPRNR*