Canonical Allele Identifier: CA2392430103
Gene: COL6A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984455G= , CM000683.2:g.45984455G= GRCh38
NC_000021.8:g.47404369G= , CM000683.1:g.47404369G= GRCh37
NC_000021.7:g.46228797G= NCBI36
NG_008674.1:g.7707G= , LRG_475:g.7707G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.414G= MANE Select ENSP00000355180.3:p.Glu138=
ENST00000361866.7:c.414G= ENSP00000355180.3:p.Glu138=
ENST00000612273.1:c.414G= ENSP00000483630.1:p.Glu138=
NM_001848.2:c.414G= , LRG_475t1:c.414G= NP_001839.2:p.Glu138=
NM_001848.3:c.414G= MANE Select NP_001839.2:p.Glu138=