Canonical Allele Identifier: CA410521505
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 598050
ClinVar RCV Id: RCV000734345
dbSNP Id: rs747542234
MyVariant Identifiers: chr21:g.47409022C>T (hg19) chr21:g.45989108C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45989108C>T , CM000683.2:g.45989108C>T GRCh38
NC_000021.8:g.47409022C>T , CM000683.1:g.47409022C>T GRCh37
NC_000021.7:g.46233450C>T NCBI36
NG_008674.1:g.12360C>T , LRG_475:g.12360C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.829C>T MANE Select ENSP00000355180.3:p.Pro277Ser
ENST00000361866.7:c.829C>T ENSP00000355180.3:p.Pro277Ser
ENST00000612273.1:c.829C>T ENSP00000483630.1:p.Pro277Ser
NM_001848.2:c.829C>T , LRG_475t1:c.829C>T NP_001839.2:p.Pro277Ser
NM_001848.3:c.829C>T MANE Select NP_001839.2:p.Pro277Ser
Search 100 bp 5'
Search 100 bp 3'