Canonical Allele Identifier: CA2392440457

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001374C= , CM000683.2:g.46001374C=	GRCh38
NC_000021.8:g.47421288C= , CM000683.1:g.47421288C=	GRCh37
NC_000021.7:g.46245716C=	NCBI36
NG_008674.1:g.24626C= , LRG_475:g.24626C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.343C=
ENST00000612273.2:c.70C=
ENST00000682634.1:c.70C=
ENST00000361866.8:c.1944C= MANE Select	ENSP00000355180.3:p.Asp648=
ENST00000361866.7:c.1944C=	ENSP00000355180.3:p.Asp648=
ENST00000463060.5:n.343C=
ENST00000498614.5:n.178C=
ENST00000612273.1:c.1938C=	ENSP00000483630.1:p.Asp646=
NM_001848.2:c.1944C= , LRG_475t1:c.1944C=	NP_001839.2:p.Asp648=
NM_001848.3:c.1944C= MANE Select	NP_001839.2:p.Asp648=