LDH info

Canonical Allele Identifier: CA344962
Gene: CPT1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 65641
ClinVar RCV Id: RCV000055854
dbSNP Id: rs397515543

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68781784G>A , CM000673.2:g.68781784G>A GRCh38
NC_000011.9:g.68549252G>A , CM000673.1:g.68549252G>A GRCh37
NC_000011.8:g.68305828G>A NCBI36
NG_011801.1:g.65148C>T

Transcript Alleles

HGVS Amino-acid change
NM_001031847.2:c.1339C>T VV NP_001027017.1:p.Arg447Ter
NM_001876.3:c.1339C>T VV NP_001867.2:p.Arg447Ter
XM_005273762.1:c.1435C>T XP_005273819.1:p.Arg479Ter
XM_005273763.1:c.1435C>T XP_005273820.1:p.Arg479Ter
XM_005273762.3:c.1435C>T XP_005273819.1:p.Arg479Ter
XM_017017220.1:c.1339C>T XP_016872709.1:p.Arg447Ter
NM_001876.4:c.1339C>T VV MANE Preferred NP_001867.2:p.Arg447Ter
NM_001031847.3:c.1339C>T VV NP_001027017.1:p.Arg447Ter
ENST00000265641.9:c.1339C>T ENSP00000265641.4:p.Arg447Ter
ENST00000376618.6:c.1339C>T ENSP00000365803.2:p.Arg447Ter
ENST00000539743.5:c.1339C>T ENSP00000446108.1:p.Arg447Ter
ENST00000540367.5:c.1339C>T ENSP00000439084.1:p.Arg447Ter