Canonical Allele Identifier: CA2392430024

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984329G= , CM000683.2:g.45984329G=	GRCh38
NC_000021.8:g.47404243G= , CM000683.1:g.47404243G=	GRCh37
NC_000021.7:g.46228671G=	NCBI36
NG_008674.1:g.7581G= , LRG_475:g.7581G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.288G= MANE Select	ENSP00000355180.3:p.Glu96=
ENST00000361866.7:c.288G=	ENSP00000355180.3:p.Glu96=
ENST00000612273.1:c.288G=	ENSP00000483630.1:p.Glu96=
NM_001848.2:c.288G= , LRG_475t1:c.288G=	NP_001839.2:p.Glu96=
NM_001848.3:c.288G= MANE Select	NP_001839.2:p.Glu96=