Canonical Allele Identifier: CA410533706
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001363C>A , CM000683.2:g.46001363C>A GRCh38
NC_000021.8:g.47421277C>A , CM000683.1:g.47421277C>A GRCh37
NC_000021.7:g.46245705C>A NCBI36
NG_008674.1:g.24615C>A , LRG_475:g.24615C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.332C>A
ENST00000612273.2:c.59C>A
ENST00000682634.1:c.59C>A
ENST00000361866.8:c.1933C>A MANE Select ENSP00000355180.3:p.Leu645Met
ENST00000361866.7:c.1933C>A ENSP00000355180.3:p.Leu645Met
ENST00000463060.5:n.332C>A
ENST00000498614.5:n.167C>A
ENST00000612273.1:c.1927C>A ENSP00000483630.1:p.Leu643Met
NM_001848.2:c.1933C>A , LRG_475t1:c.1933C>A NP_001839.2:p.Leu645Met
NM_001848.3:c.1933C>A MANE Select NP_001839.2:p.Leu645Met