Canonical Allele Identifier: CA2392440432

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001321T= , CM000683.2:g.46001321T=	GRCh38
NC_000021.8:g.47421235T= , CM000683.1:g.47421235T=	GRCh37
NC_000021.7:g.46245663T=	NCBI36
NG_008674.1:g.24573T= , LRG_475:g.24573T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.290T=
ENST00000612273.2:c.17T=
ENST00000682634.1:c.17T=
ENST00000361866.8:c.1891T= MANE Select	ENSP00000355180.3:p.Phe631=
ENST00000361866.7:c.1891T=	ENSP00000355180.3:p.Phe631=
ENST00000463060.5:n.290T=
ENST00000498614.5:n.125T=
ENST00000612273.1:c.1885T=	ENSP00000483630.1:p.Phe629=
NM_001848.2:c.1891T= , LRG_475t1:c.1891T=	NP_001839.2:p.Phe631=
NM_001848.3:c.1891T= MANE Select	NP_001839.2:p.Phe631=