Canonical Allele Identifier: CA2392440446

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001356C= , CM000683.2:g.46001356C=	GRCh38
NC_000021.8:g.47421270C= , CM000683.1:g.47421270C=	GRCh37
NC_000021.7:g.46245698C=	NCBI36
NG_008674.1:g.24608C= , LRG_475:g.24608C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.325C=
ENST00000612273.2:c.52C=
ENST00000682634.1:c.52C=
ENST00000361866.8:c.1926C= MANE Select	ENSP00000355180.3:p.Ile642=
ENST00000361866.7:c.1926C=	ENSP00000355180.3:p.Ile642=
ENST00000463060.5:n.325C=
ENST00000498614.5:n.160C=
ENST00000612273.1:c.1920C=	ENSP00000483630.1:p.Ile640=
NM_001848.2:c.1926C= , LRG_475t1:c.1926C=	NP_001839.2:p.Ile642=
NM_001848.3:c.1926C= MANE Select	NP_001839.2:p.Ile642=