Canonical Allele Identifier: CA410533689
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001358A>C , CM000683.2:g.46001358A>C GRCh38
NC_000021.8:g.47421272A>C , CM000683.1:g.47421272A>C GRCh37
NC_000021.7:g.46245700A>C NCBI36
NG_008674.1:g.24610A>C , LRG_475:g.24610A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.327A>C
ENST00000612273.2:c.54A>C
ENST00000682634.1:c.54A>C
ENST00000361866.8:c.1928A>C MANE Select ENSP00000355180.3:p.Asp643Ala
ENST00000361866.7:c.1928A>C ENSP00000355180.3:p.Asp643Ala
ENST00000463060.5:n.327A>C
ENST00000498614.5:n.162A>C
ENST00000612273.1:c.1922A>C ENSP00000483630.1:p.Asp641Ala
NM_001848.2:c.1928A>C , LRG_475t1:c.1928A>C NP_001839.2:p.Asp643Ala
NM_001848.3:c.1928A>C MANE Select NP_001839.2:p.Asp643Ala