Canonical Allele Identifier: CA2392432138

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987613G= , CM000683.2:g.45987613G=	GRCh38
NC_000021.8:g.47407527G= , CM000683.1:g.47407527G=	GRCh37
NC_000021.7:g.46231955G=	NCBI36
NG_008674.1:g.10865G= , LRG_475:g.10865G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.763G= MANE Select	ENSP00000355180.3:p.Ala255=
ENST00000361866.7:c.763G=	ENSP00000355180.3:p.Ala255=
ENST00000492851.1:n.415G=
ENST00000612273.1:c.763G=	ENSP00000483630.1:p.Ala255=
NM_001848.2:c.763G= , LRG_475t1:c.763G=	NP_001839.2:p.Ala255=
NM_001848.3:c.763G= MANE Select	NP_001839.2:p.Ala255=