Canonical Allele Identifier: CA2392438151

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45997713C= , CM000683.2:g.45997713C=	GRCh38
NC_000021.8:g.47417627C= , CM000683.1:g.47417627C=	GRCh37
NC_000021.7:g.46242055C=	NCBI36
NG_008674.1:g.20965C= , LRG_475:g.20965C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000683550.1:n.250C=
ENST00000361866.8:c.1475C= MANE Select	ENSP00000355180.3:p.Ala492=
ENST00000361866.7:c.1475C=	ENSP00000355180.3:p.Ala492=
ENST00000612273.1:c.1475C=	ENSP00000483630.1:p.Ala492=
NM_001848.2:c.1475C= , LRG_475t1:c.1475C=	NP_001839.2:p.Ala492=
NM_001848.3:c.1475C= MANE Select	NP_001839.2:p.Ala492=