Canonical Allele Identifier: CA10069523
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285070
dbSNP Id: rs781396484

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984352C>T , CM000683.2:g.45984352C>T GRCh38
NC_000021.8:g.47404266C>T , CM000683.1:g.47404266C>T GRCh37
NC_000021.7:g.46228694C>T NCBI36
NG_008674.1:g.7604C>T , LRG_475:g.7604C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.311C>T MANE Select ENSP00000355180.3:p.Thr104Met
ENST00000361866.7:c.311C>T ENSP00000355180.3:p.Thr104Met
ENST00000612273.1:c.311C>T ENSP00000483630.1:p.Thr104Met
NM_001848.2:c.311C>T , LRG_475t1:c.311C>T NP_001839.2:p.Thr104Met
NM_001848.3:c.311C>T MANE Select NP_001839.2:p.Thr104Met