ENST00000674590.1 SMC1A

Information
Transcript ID
ENST00000674590.1
Genome
hg38
Position
chrX:53,380,054-53,422,728
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 53,380,054 53,380,186
22 53,380,620 53,380,730
21 53,381,018 53,381,087
20 53,382,232 53,382,383
19 53,382,506 53,382,660
18 53,383,097 53,383,253
17 53,394,778 53,394,888
16 53,396,227 53,396,380
15 53,396,472 53,396,617
14 53,399,589 53,399,730
13 53,403,566 53,403,672
12 53,403,777 53,403,893
11 53,405,012 53,405,149
10 53,405,245 53,405,391
9 53,405,493 53,405,672
8 53,405,771 53,405,956
7 53,409,062 53,409,269
6 53,409,421 53,409,503
5 53,411,761 53,411,901
4 53,414,758 53,414,870
3 53,414,981 53,415,169
2 53,421,895 53,422,040
1 53,422,492 53,422,728
CDS
Exon number Type Start Stop
23 CDS 53,380,103 53,380,186
22 CDS 53,380,620 53,380,730
21 CDS 53,381,018 53,381,087
20 CDS 53,382,232 53,382,383
19 CDS 53,382,506 53,382,660
18 CDS 53,383,097 53,383,253
17 CDS 53,394,778 53,394,888
16 CDS 53,396,227 53,396,380
15 CDS 53,396,472 53,396,617
14 CDS 53,399,589 53,399,730
13 CDS 53,403,566 53,403,672
12 CDS 53,403,777 53,403,893
11 CDS 53,405,012 53,405,149
10 CDS 53,405,245 53,405,391
9 CDS 53,405,493 53,405,672
8 CDS 53,405,771 53,405,956
7 CDS 53,409,062 53,409,269
6 CDS 53,409,421 53,409,503
5 CDS 53,411,761 53,411,901
4 CDS 53,414,758 53,414,870
3 CDS 53,414,981 53,415,169
2 CDS 53,421,895 53,421,937
Other genome
Genome Chromosome Start End Links
hg19 chrX 53,406,975 53,449,677 Link
CDS sequence
ATGCTTGAGGTGTCGATCCCCACCCCCCACCGCTATGTCAGAGGTAAGTCAAATCTCATGGATGCCATCAGCTTTGTGCTAGGTGAAAAAACCAGCAACCTGCGGGTAAAGACCCTGCGGGACCTGATCCATGGAGCTCCTGTGGGCAAGCCAGCTGCCAACCGGGCCTTTGTCAGCATGGTCTACTCTGAGGAGGGTGCTGAGGACCGTACCTTTGCCCGTGTCATTGTAGGAGGTTCTTCTGAGTACAAGATCAACAACAAAGTGGTCCAACTACATGAGTACAGTGAGGAATTAGAGAAGTTGGGCATTCTCATCAAAGCTCGTAACTTCCTCGTTTTCCAGGTGAAGAAATACCACCGGTTGAAAGAAGAAGCCAGCAAGAGAGCAGCTACCCTGGCCCAGGAGCTGGAGAAATTCAATCGAGACCAGAAAGCTGACCAGGACCGTCTGGATCTGGAAGAACGGAAGAAAGTAGAGACAGAGGCCAAGATCAAGCAAAAGCTGCGGGAAATTGAAGAGAATCAGAAGCGGATTGAGAAACTGGAGGAATACATCACCACTAGCAAGCAGTCCCTAGAAGAGCAGAAGAAGCTAGAGGGGGAGCTGACAGAGGAGGTGGAGATGGCCAAGCGGCGTATTGATGAAATCAATAAGGAGCTGAACCAGGTGATGGAGCAGCTAGGGGATGCCCGCATCGACCGCCAGGAGAGCAGCCGCCAGCAGCGAAAGGCAGAGATAATGGAAAGCATCAAGCGCCTTTACCCTGGCTCTGTGTACGGCCGCCTCATTGACCTATGCCAGCCCACACAAAAGAAGTATCAGATTGCTGTAACCAAGGTTTTGGGCAAGAACATGGATGCCATTATTGTGGACTCGGAGAAGACAGGCCGGGACTGTATTCAGTATATCAAGGAGCAGCGTGGGGAGCCTGAGACCTTCTTGCCTCTTGACTACCTGGAGGTGAAGCCTACAGATGAGAAACTCCGGGAGCTGAAGGGGGCCAAGCTAGTGATTGATGTGATTCGCTATGAGCCACCTCATATCAAAAAGGCCCTGCAGTATGCTTGTGGCAATGCCCTTGTCTGTGACAACGTGGAAGATGCCCGCCGCATTGCCTTTGGAGGCCACCAGCGCCACAAGACAGTGGCACTGGATGGAACCCTATTCCAGAAGTCAGGAGTGATCTCTGGTGGGGCCAGTGACCTGAAGGCCAAGGCACGGCGCTGGGATGAGAAAGCAGTAGACAAGTTGAAAGAGAAGAAGGAGCGCTTGACAGAGGAGCTGAAAGAGCAGATGAAGGCAAAACGGAAAGAGGCAGAGCTGCGTCAGGTGCAGTCTCAGGCCCATGGACTGCAGATGCGGCTCAAGTACTCCCAGAGTGACCTAGAACAGACCAAGACACGACATCTAGCCCTGAATCTGCAGGAAAAATCCAAGCTGGAGAGTGAGCTAGCCAACTTTGGGCCTCGCATTAATGATATCAAGAGGATCATTCAGAGCCGAGAGAGGGAAATGAAAGACTTGAAGGAGAAGATGAACCAGGTAGAGGATGAGGTGTTTGAAGAGTTTTGTCGGGAGATTGGTGTGCGCAACATCCGGGAGTTTGAGGAAGAAAAGGTGAAACGGCAGAATGAAATCGCCAAGAAGCGTTTGGAGTTTGAGAATCAGAAGACTCGCTTGGGCATTCAGTTGGATTTTGAAAAGAACCAACTGAAGGAGGACCAAGATAAAGTACACATGTGGGAGCAGACAGTGAAAAAAGATGAAAATGAGATAGAAAAGCTCAAAAAGGAGGAACAAAGACACATGAAGATCATAGATGAGACCATGGCTCAGCTACAAGACCTGAAGAATCAGCATCTGGCCAAGAAGTCGGAAGTGAATGACAAGAATCATGAGATGGAGGAGATTCGTAAGAAACTCGGGGGCGCCAACAAGGAAATGACCCATTTACAGAAGGAGGTGACAGCCATTGAGACCAAGCTTGAACAGAAGCGCAGTGACCGTCACAACTTGCTACAGGCCTGTAAGATGCAGGACATTAAGTTGCCACTGTCAAAAGGCACCATGGATGATATTAGTCAGGAAGAGGGTAGCTCCCAGGGGGAGGACTCAGTGAGTGGTTCACAGAGAATTTCCAGTATCTATGCACGAGAGGCCCTCATTGAGATTGACTACGGTGATCTGTGTGAGGATCTGAAGGATGCCCAGGCTGAGGAAGAGATCAAGCAAGAGATGAACACACTGCAGCAGAAGCTGAATGAGCAGCAGAGTGTGCTTCAGCGTATTGCCGCCCCCAACATGAAGGCCATGGAAAAGCTGGAAAGTGTCCGAGACAAGTTCCAGGAGACCTCAGATGAGTTTGAAGCAGCCCGAAAGCGAGCAAAGAAGGCCAAGCAGGCATTCGAACAGATCAAGAAGGAGCGCTTTGACCGCTTCAATGCTTGTTTTGAATCTGTGGCTACCAACATTGATGAGATCTATAAGGCCCTGTCCCGCAATAGCAGTGCCCAGGCATTCCTGGGCCCTGAGAACCCTGAAGAGCCCTACTTGGATGGCATCAACTACAACTGTGTGGCTCCTGGGAAACGCTTCCGGCCTATGGACAACTTGTCAGGCGGGGAGAAGACAGTGGCAGCTCTGGCCCTGCTCTTTGCCATCCACAGCTACAAGCCAGCCCCCTTCTTCGTCCTGGATGAGATTGATGCTGCCTTGGATAACACCAACATTGGCAAGGTGGCAAATTACATCAAGGAGCAGTCGACTTGCAACTTCCAGGCCATCGTCATCTCTCTCAAGGAGGAGTTCTACACCAAGGCCGAGAGCCTCATTGGAGTCTATCCTGAGCAAGGGGACTGTGTGATCAGCAAAGTCCTGACCTTCGACCTCACCAAGTACCCAGATGCCAACCCCAACCCCAATGAGCAGTAG
Amino sequence
MLEVSIPTPHRYVRGKSNLMDAISFVLGEKTSNLRVKTLRDLIHGAPVGKPAANRAFVSMVYSEEGAEDRTFARVIVGGSSEYKINNKVVQLHEYSEELEKLGILIKARNFLVFQVKKYHRLKEEASKRAATLAQELEKFNRDQKADQDRLDLEERKKVETEAKIKQKLREIEENQKRIEKLEEYITTSKQSLEEQKKLEGELTEEVEMAKRRIDEINKELNQVMEQLGDARIDRQESSRQQRKAEIMESIKRLYPGSVYGRLIDLCQPTQKKYQIAVTKVLGKNMDAIIVDSEKTGRDCIQYIKEQRGEPETFLPLDYLEVKPTDEKLRELKGAKLVIDVIRYEPPHIKKALQYACGNALVCDNVEDARRIAFGGHQRHKTVALDGTLFQKSGVISGGASDLKAKARRWDEKAVDKLKEKKERLTEELKEQMKAKRKEAELRQVQSQAHGLQMRLKYSQSDLEQTKTRHLALNLQEKSKLESELANFGPRINDIKRIIQSREREMKDLKEKMNQVEDEVFEEFCREIGVRNIREFEEEKVKRQNEIAKKRLEFENQKTRLGIQLDFEKNQLKEDQDKVHMWEQTVKKDENEIEKLKKEEQRHMKIIDETMAQLQDLKNQHLAKKSEVNDKNHEMEEIRKKLGGANKEMTHLQKEVTAIETKLEQKRSDRHNLLQACKMQDIKLPLSKGTMDDISQEEGSSQGEDSVSGSQRISSIYAREALIEIDYGDLCEDLKDAQAEEEIKQEMNTLQQKLNEQQSVLQRIAAPNMKAMEKLESVRDKFQETSDEFEAARKRAKKAKQAFEQIKKERFDRFNACFESVATNIDEIYKALSRNSSAQAFLGPENPEEPYLDGINYNCVAPGKRFRPMDNLSGGEKTVAALALLFAIHSYKPAPFFVLDEIDAALDNTNIGKVANYIKEQSTCNFQAIVISLKEEFYTKAESLIGVYPEQGDCVISKVLTFDLTKYPDANPNPNEQ*