Canonical Allele Identifier: CA2392434412

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990724A= , CM000683.2:g.45990724A=	GRCh38
NC_000021.8:g.47410638A= , CM000683.1:g.47410638A=	GRCh37
NC_000021.7:g.46235066A=	NCBI36
NG_008674.1:g.13976A= , LRG_475:g.13976A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1003-49A= MANE Select	ENSP00000355180.3:n.1003-49A=
ENST00000361866.7:c.1003-49A=	ENSP00000355180.3:n.1003-49A=
ENST00000612273.1:c.1003-49A=	ENSP00000483630.1:n.1003-49A=
NM_001848.2:c.1003-49A= , LRG_475t1:c.1003-49A=	NP_001839.2:n.1003-49A=
NM_001848.3:c.1003-49A= MANE Select	NP_001839.2:n.1003-49A=