Canonical Allele Identifier: CA2392434462

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990824G= , CM000683.2:g.45990824G=	GRCh38
NC_000021.8:g.47410738G= , CM000683.1:g.47410738G=	GRCh37
NC_000021.7:g.46235166G=	NCBI36
NG_008674.1:g.14076G= , LRG_475:g.14076G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1054G= MANE Select	ENSP00000355180.3:p.Asp352=
ENST00000361866.7:c.1054G=	ENSP00000355180.3:p.Asp352=
ENST00000612273.1:c.1054G=	ENSP00000483630.1:p.Asp352=
NM_001848.2:c.1054G= , LRG_475t1:c.1054G=	NP_001839.2:p.Asp352=
NM_001848.3:c.1054G= MANE Select	NP_001839.2:p.Asp352=