ENST00000674590.1 SMC1A

Information
Transcript ID
ENST00000674590.1
Genome
hg19
Position
chrX:53,406,975-53,449,677
Strand
-
CDS length
2,934
Amino acid length
978
Gene symbol
SMC1A
Gene type
protein-coding
Gene description
structural maintenance of chromosomes 1A
Gene Entrez Gene ID
8243
Variants

Display target variant


Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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
23 53,406,975 53,407,107
22 53,407,541 53,407,651
21 53,407,939 53,408,008
20 53,409,153 53,409,304
19 53,409,427 53,409,581
18 53,410,018 53,410,174
17 53,421,698 53,421,808
16 53,423,147 53,423,300
15 53,423,392 53,423,537
14 53,426,511 53,426,652
13 53,430,498 53,430,604
12 53,430,709 53,430,825
11 53,431,944 53,432,081
10 53,432,177 53,432,323
9 53,432,425 53,432,604
8 53,432,703 53,432,888
7 53,435,993 53,436,200
6 53,436,352 53,436,434
5 53,438,711 53,438,851
4 53,441,707 53,441,819
3 53,441,930 53,442,118
2 53,448,845 53,448,990
1 53,449,441 53,449,677
CDS
Exon number Type Start Stop
23 CDS 53,407,024 53,407,107
22 CDS 53,407,541 53,407,651
21 CDS 53,407,939 53,408,008
20 CDS 53,409,153 53,409,304
19 CDS 53,409,427 53,409,581
18 CDS 53,410,018 53,410,174
17 CDS 53,421,698 53,421,808
16 CDS 53,423,147 53,423,300
15 CDS 53,423,392 53,423,537
14 CDS 53,426,511 53,426,652
13 CDS 53,430,498 53,430,604
12 CDS 53,430,709 53,430,825
11 CDS 53,431,944 53,432,081
10 CDS 53,432,177 53,432,323
9 CDS 53,432,425 53,432,604
8 CDS 53,432,703 53,432,888
7 CDS 53,435,993 53,436,200
6 CDS 53,436,352 53,436,434
5 CDS 53,438,711 53,438,851
4 CDS 53,441,707 53,441,819
3 CDS 53,441,930 53,442,118
2 CDS 53,448,845 53,448,887
Other genome
Genome Chromosome Start End Links
hg38 chrX 53,380,054 53,422,728 Link
CDS sequence
ATGCTTGAGGTGTCGATCCCCACCCCCCACCGCTATGTCAGAGGTAAGTCAAATCTCATGGATGCCATCAGCTTTGTGCTAGGTGAAAAAACCAGCAACCTGCGGGTAAAGACCCTGCGGGACCTGATCCATGGAGCTCCTGTGGGCAAGCCAGCTGCCAACCGGGCCTTTGTCAGCATGGTCTACTCTGAGGAGGGTGCTGAGGACCGTACCTTTGCCCGTGTCATTGTAGGAGGTTCTTCTGAGTACAAGATCAACAACAAAGTGGTCCAACTACATGAGTACAGTGAGGAATTAGAGAAGTTGGGCATTCTCATCAAAGCTCGTAACTTCCTCGTTTTCCAGGTGAAGAAATACCACCGGTTGAAAGAAGAAGCCAGCAAGAGAGCAGCTACCCTGGCCCAGGAGCTGGAGAAATTCAATCGAGACCAGAAAGCTGACCAGGACCGTCTGGATCTGGAAGAACGGAAGAAAGTAGAGACAGAGGCCAAGATCAAGCAAAAGCTGCGGGAAATTGAAGAGAATCAGAAGCGGATTGAGAAACTGGAGGAATACATCACCACTAGCAAGCAGTCCCTAGAAGAGCAGAAGAAGCTAGAGGGGGAGCTGACAGAGGAGGTGGAGATGGCCAAGCGGCGTATTGATGAAATCAATAAGGAGCTGAACCAGGTGATGGAGCAGCTAGGGGATGCCCGCATCGACCGCCAGGAGAGCAGCCGCCAGCAGCGAAAGGCAGAGATAATGGAAAGCATCAAGCGCCTTTACCCTGGCTCTGTGTACGGCCGCCTCATTGACCTATGCCAGCCCACACAAAAGAAGTATCAGATTGCTGTAACCAAGGTTTTGGGCAAGAACATGGATGCCATTATTGTGGACTCGGAGAAGACAGGCCGGGACTGTATTCAGTATATCAAGGAGCAGCGTGGGGAGCCTGAGACCTTCTTGCCTCTTGACTACCTGGAGGTGAAGCCTACAGATGAGAAACTCCGGGAGCTGAAGGGGGCCAAGCTAGTGATTGATGTGATTCGCTATGAGCCACCTCATATCAAAAAGGCCCTGCAGTATGCTTGTGGCAATGCCCTTGTCTGTGACAACGTGGAAGATGCCCGCCGCATTGCCTTTGGAGGCCACCAGCGCCACAAGACAGTGGCACTGGATGGAACCCTATTCCAGAAGTCAGGAGTGATCTCTGGTGGGGCCAGTGACCTGAAGGCCAAGGCACGGCGCTGGGATGAGAAAGCAGTAGACAAGTTGAAAGAGAAGAAGGAGCGCTTGACAGAGGAGCTGAAAGAGCAGATGAAGGCAAAACGGAAAGAGGCAGAGCTGCGTCAGGTGCAGTCTCAGGCCCATGGACTGCAGATGCGGCTCAAGTACTCCCAGAGTGACCTAGAACAGACCAAGACACGACATCTAGCCCTGAATCTGCAGGAAAAATCCAAGCTGGAGAGTGAGCTAGCCAACTTTGGGCCTCGCATTAATGATATCAAGAGGATCATTCAGAGCCGAGAGAGGGAAATGAAAGACTTGAAGGAGAAGATGAACCAGGTAGAGGATGAGGTGTTTGAAGAGTTTTGTCGGGAGATTGGTGTGCGCAACATCCGGGAGTTTGAGGAAGAAAAGGTGAAACGGCAGAATGAAATCGCCAAGAAGCGTTTGGAGTTTGAGAATCAGAAGACTCGCTTGGGCATTCAGTTGGATTTTGAAAAGAACCAACTGAAGGAGGACCAAGATAAAGTACACATGTGGGAGCAGACAGTGAAAAAAGATGAAAATGAGATAGAAAAGCTCAAAAAGGAGGAACAAAGACACATGAAGATCATAGATGAGACCATGGCTCAGCTACAAGACCTGAAGAATCAGCATCTGGCCAAGAAGTCGGAAGTGAATGACAAGAATCATGAGATGGAGGAGATTCGTAAGAAACTCGGGGGCGCCAACAAGGAAATGACCCATTTACAGAAGGAGGTGACAGCCATTGAGACCAAGCTTGAACAGAAGCGCAGTGACCGTCACAACTTGCTACAGGCCTGTAAGATGCAGGACATTAAGTTGCCACTGTCAAAAGGCACCATGGATGATATTAGTCAGGAAGAGGGTAGCTCCCAGGGGGAGGACTCAGTGAGTGGTTCACAGAGAATTTCCAGTATCTATGCACGAGAGGCCCTCATTGAGATTGACTACGGTGATCTGTGTGAGGATCTGAAGGATGCCCAGGCTGAGGAAGAGATCAAGCAAGAGATGAACACACTGCAGCAGAAGCTGAATGAGCAGCAGAGTGTGCTTCAGCGTATTGCCGCCCCCAACATGAAGGCCATGGAAAAGCTGGAAAGTGTCCGAGACAAGTTCCAGGAGACCTCAGATGAGTTTGAAGCAGCCCGAAAGCGAGCAAAGAAGGCCAAGCAGGCATTCGAACAGATCAAGAAGGAGCGCTTTGACCGCTTCAATGCTTGTTTTGAATCTGTGGCTACCAACATTGATGAGATCTATAAGGCCCTGTCCCGCAATAGCAGTGCCCAGGCATTCCTGGGCCCTGAGAACCCTGAAGAGCCCTACTTGGATGGCATCAACTACAACTGTGTGGCTCCTGGGAAACGCTTCCGGCCTATGGACAACTTGTCAGGCGGGGAGAAGACAGTGGCAGCTCTGGCCCTGCTCTTTGCCATCCACAGCTACAAGCCAGCCCCCTTCTTCGTCCTGGATGAGATTGATGCTGCCTTGGATAACACCAACATTGGCAAGGTGGCAAATTACATCAAGGAGCAGTCGACTTGCAACTTCCAGGCCATCGTCATCTCTCTCAAGGAGGAGTTCTACACCAAGGCCGAGAGCCTCATTGGAGTCTATCCTGAGCAAGGGGACTGTGTGATCAGCAAAGTCCTGACCTTCGACCTCACCAAGTACCCAGATGCCAACCCCAACCCCAATGAGCAGTAG
Amino sequence
MLEVSIPTPHRYVRGKSNLMDAISFVLGEKTSNLRVKTLRDLIHGAPVGKPAANRAFVSMVYSEEGAEDRTFARVIVGGSSEYKINNKVVQLHEYSEELEKLGILIKARNFLVFQVKKYHRLKEEASKRAATLAQELEKFNRDQKADQDRLDLEERKKVETEAKIKQKLREIEENQKRIEKLEEYITTSKQSLEEQKKLEGELTEEVEMAKRRIDEINKELNQVMEQLGDARIDRQESSRQQRKAEIMESIKRLYPGSVYGRLIDLCQPTQKKYQIAVTKVLGKNMDAIIVDSEKTGRDCIQYIKEQRGEPETFLPLDYLEVKPTDEKLRELKGAKLVIDVIRYEPPHIKKALQYACGNALVCDNVEDARRIAFGGHQRHKTVALDGTLFQKSGVISGGASDLKAKARRWDEKAVDKLKEKKERLTEELKEQMKAKRKEAELRQVQSQAHGLQMRLKYSQSDLEQTKTRHLALNLQEKSKLESELANFGPRINDIKRIIQSREREMKDLKEKMNQVEDEVFEEFCREIGVRNIREFEEEKVKRQNEIAKKRLEFENQKTRLGIQLDFEKNQLKEDQDKVHMWEQTVKKDENEIEKLKKEEQRHMKIIDETMAQLQDLKNQHLAKKSEVNDKNHEMEEIRKKLGGANKEMTHLQKEVTAIETKLEQKRSDRHNLLQACKMQDIKLPLSKGTMDDISQEEGSSQGEDSVSGSQRISSIYAREALIEIDYGDLCEDLKDAQAEEEIKQEMNTLQQKLNEQQSVLQRIAAPNMKAMEKLESVRDKFQETSDEFEAARKRAKKAKQAFEQIKKERFDRFNACFESVATNIDEIYKALSRNSSAQAFLGPENPEEPYLDGINYNCVAPGKRFRPMDNLSGGEKTVAALALLFAIHSYKPAPFFVLDEIDAALDNTNIGKVANYIKEQSTCNFQAIVISLKEEFYTKAESLIGVYPEQGDCVISKVLTFDLTKYPDANPNPNEQ*