Canonical Allele Identifier: CA2392440406

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001259A= , CM000683.2:g.46001259A=	GRCh38
NC_000021.8:g.47421173A= , CM000683.1:g.47421173A=	GRCh37
NC_000021.7:g.46245601A=	NCBI36
NG_008674.1:g.24511A= , LRG_475:g.24511A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.228A=
ENST00000361866.8:c.1829A= MANE Select	ENSP00000355180.3:p.Lys610=
ENST00000361866.7:c.1829A=	ENSP00000355180.3:p.Lys610=
ENST00000463060.5:n.228A=
ENST00000498614.5:n.63A=
ENST00000612273.1:c.1823A=	ENSP00000483630.1:p.Lys608=
NM_001848.2:c.1829A= , LRG_475t1:c.1829A=	NP_001839.2:p.Lys610=
NM_001848.3:c.1829A= MANE Select	NP_001839.2:p.Lys610=