LDH info

Canonical Allele Identifier: CA221862
Gene: CPT1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 65653
dbSNP Id: rs80356775

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68807553G>A , CM000673.2:g.68807553G>A GRCh38
NC_000011.9:g.68575021G>A , CM000673.1:g.68575021G>A GRCh37
NC_000011.8:g.68331597G>A NCBI36
NG_011801.1:g.39379C>T

Transcript Alleles

HGVS Amino-acid change
NM_001031847.2:c.367C>T VV NP_001027017.1:p.Arg123Cys
NM_001876.3:c.367C>T VV NP_001867.2:p.Arg123Cys
XM_005273762.1:c.463C>T XP_005273819.1:p.Arg155Cys
XM_005273763.1:c.463C>T XP_005273820.1:p.Arg155Cys
XM_005273762.3:c.463C>T XP_005273819.1:p.Arg155Cys
XM_017017220.1:c.367C>T XP_016872709.1:p.Arg123Cys
NM_001876.4:c.367C>T VV MANE Preferred NP_001867.2:p.Arg123Cys
ENST00000265641.9:c.367C>T ENSP00000265641.4:p.Arg123Cys
ENST00000376618.6:c.367C>T ENSP00000365803.2:p.Arg123Cys
ENST00000539743.5:c.367C>T ENSP00000446108.1:p.Arg123Cys
ENST00000540367.5:c.367C>T ENSP00000439084.1:p.Arg123Cys
ENST00000565318.5:c.367C>T ENSP00000457826.1:p.Arg123Cys