Canonical Allele Identifier: CA10070661
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 522912
ClinVar RCV Id: RCV000626107
dbSNP Id: rs764129993

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001375G>A , CM000683.2:g.46001375G>A GRCh38
NC_000021.8:g.47421289G>A , CM000683.1:g.47421289G>A GRCh37
NC_000021.7:g.46245717G>A NCBI36
NG_008674.1:g.24627G>A , LRG_475:g.24627G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.1945G>A MANE Select ENSP00000355180.3:p.Glu649Lys
ENST00000361866.7:c.1945G>A ENSP00000355180.3:p.Glu649Lys
ENST00000463060.5:n.344G>A
ENST00000498614.5:n.179G>A
ENST00000612273.1:c.1939G>A ENSP00000483630.1:p.Glu647Lys
NM_001848.2:c.1945G>A , LRG_475t1:c.1945G>A NP_001839.2:p.Glu649Lys
NM_001848.3:c.1945G>A MANE Select NP_001839.2:p.Glu649Lys