Canonical Allele Identifier: CA2392432061

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987501C= , CM000683.2:g.45987501C=	GRCh38
NC_000021.8:g.47407415C= , CM000683.1:g.47407415C=	GRCh37
NC_000021.7:g.46231843C=	NCBI36
NG_008674.1:g.10753C= , LRG_475:g.10753C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.741C= MANE Select	ENSP00000355180.3:p.Cys247=
ENST00000361866.7:c.741C=	ENSP00000355180.3:p.Cys247=
ENST00000492851.1:n.393C=
ENST00000612273.1:c.741C=	ENSP00000483630.1:p.Cys247=
NM_001848.2:c.741C= , LRG_475t1:c.741C=	NP_001839.2:p.Cys247=
NM_001848.3:c.741C= MANE Select	NP_001839.2:p.Cys247=