Canonical Allele Identifier: CA10070879

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46002729G>A , CM000683.2:g.46002729G>A	GRCh38
NC_000021.8:g.47422643G>A , CM000683.1:g.47422643G>A	GRCh37
NC_000021.7:g.46247071G>A	NCBI36
NG_008674.1:g.25981G>A , LRG_475:g.25981G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001848.3:c.2434+19G>A MANE Select	NP_001839.2:n.2434+19G>A
ENST00000361866.8:c.2434+19G>A MANE Select	ENSP00000355180.3:n.2434+19G>A
NM_001848.2:c.2434+19G>A , LRG_475t1:c.2434+19G>A	NP_001839.2:n.2434+19G>A
ENST00000361866.7:c.2434+19G>A	ENSP00000355180.3:n.2434+19G>A
ENST00000463060.5:n.833+19G>A
ENST00000463060.6:n.833+19G>A
ENST00000486023.1:n.222+19G>A
ENST00000498614.5:n.668+19G>A
ENST00000612273.1:c.2428+19G>A	ENSP00000483630.1:n.2428+19G>A
ENST00000612273.2:c.560+19G>A
ENST00000682634.1:c.560+19G>A