Canonical Allele Identifier: CA2392430044

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984365C= , CM000683.2:g.45984365C=	GRCh38
NC_000021.8:g.47404279C= , CM000683.1:g.47404279C=	GRCh37
NC_000021.7:g.46228707C=	NCBI36
NG_008674.1:g.7617C= , LRG_475:g.7617C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.324C= MANE Select	ENSP00000355180.3:p.Gly108=
ENST00000361866.7:c.324C=	ENSP00000355180.3:p.Gly108=
ENST00000612273.1:c.324C=	ENSP00000483630.1:p.Gly108=
NM_001848.2:c.324C= , LRG_475t1:c.324C=	NP_001839.2:p.Gly108=
NM_001848.3:c.324C= MANE Select	NP_001839.2:p.Gly108=