Canonical Allele Identifier: CA2392434377

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990652C= , CM000683.2:g.45990652C=	GRCh38
NC_000021.8:g.47410566C= , CM000683.1:g.47410566C=	GRCh37
NC_000021.7:g.46234994C=	NCBI36
NG_008674.1:g.13904C= , LRG_475:g.13904C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1003-121C= MANE Select	ENSP00000355180.3:n.1003-121C=
ENST00000361866.7:c.1003-121C=	ENSP00000355180.3:n.1003-121C=
ENST00000612273.1:c.1003-121C=	ENSP00000483630.1:n.1003-121C=
NM_001848.2:c.1003-121C= , LRG_475t1:c.1003-121C=	NP_001839.2:n.1003-121C=
NM_001848.3:c.1003-121C= MANE Select	NP_001839.2:n.1003-121C=