Canonical Allele Identifier: CA221786
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17173
dbSNP Id: rs121912936

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984403A>G , CM000683.2:g.45984403A>G GRCh38
NC_000021.8:g.47404317A>G , CM000683.1:g.47404317A>G GRCh37
NC_000021.7:g.46228745A>G NCBI36
NG_008674.1:g.7655A>G , LRG_475:g.7655A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.362A>G MANE Select ENSP00000355180.3:p.Lys121Arg
ENST00000361866.7:c.362A>G ENSP00000355180.3:p.Lys121Arg
ENST00000612273.1:c.362A>G ENSP00000483630.1:p.Lys121Arg
NM_001848.2:c.362A>G , LRG_475t1:c.362A>G NP_001839.2:p.Lys121Arg
NM_001848.3:c.362A>G MANE Select NP_001839.2:p.Lys121Arg