Canonical Allele Identifier: CA2392432011

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987429T= , CM000683.2:g.45987429T=	GRCh38
NC_000021.8:g.47407343T= , CM000683.1:g.47407343T=	GRCh37
NC_000021.7:g.46231771T=	NCBI36
NG_008674.1:g.10681T= , LRG_475:g.10681T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.739-70T= MANE Select	ENSP00000355180.3:n.739-70T=
ENST00000361866.7:c.739-70T=	ENSP00000355180.3:n.739-70T=
ENST00000492851.1:n.321T=
ENST00000612273.1:c.739-70T=	ENSP00000483630.1:n.739-70T=
NM_001848.2:c.739-70T= , LRG_475t1:c.739-70T=	NP_001839.2:n.739-70T=
NM_001848.3:c.739-70T= MANE Select	NP_001839.2:n.739-70T=