Canonical Allele Identifier: CA410516305
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984432T>G , CM000683.2:g.45984432T>G GRCh38
NC_000021.8:g.47404346T>G , CM000683.1:g.47404346T>G GRCh37
NC_000021.7:g.46228774T>G NCBI36
NG_008674.1:g.7684T>G , LRG_475:g.7684T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.391T>G MANE Select ENSP00000355180.3:p.Cys131Gly
ENST00000361866.7:c.391T>G ENSP00000355180.3:p.Cys131Gly
ENST00000612273.1:c.391T>G ENSP00000483630.1:p.Cys131Gly
NM_001848.2:c.391T>G , LRG_475t1:c.391T>G NP_001839.2:p.Cys131Gly
NM_001848.3:c.391T>G MANE Select NP_001839.2:p.Cys131Gly