LDH info

Canonical Allele Identifier: CA340850
Gene: CPT1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9062
ClinVar RCV Id: RCV000009629
dbSNP Id: rs80356787

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68784899T>C , CM000673.2:g.68784899T>C GRCh38
NC_000011.9:g.68552367T>C , CM000673.1:g.68552367T>C GRCh37
NC_000011.8:g.68308943T>C NCBI36
NG_011801.1:g.62033A>G

Transcript Alleles

HGVS Amino-acid change
NM_001031847.2:c.1079A>G VV NP_001027017.1:p.Glu360Gly
NM_001876.3:c.1079A>G VV NP_001867.2:p.Glu360Gly
XM_005273762.1:c.1175A>G XP_005273819.1:p.Glu392Gly
XM_005273763.1:c.1175A>G XP_005273820.1:p.Glu392Gly
XM_005273762.3:c.1175A>G XP_005273819.1:p.Glu392Gly
XM_017017220.1:c.1079A>G XP_016872709.1:p.Glu360Gly
NM_001876.4:c.1079A>G VV MANE Preferred NP_001867.2:p.Glu360Gly
NM_001031847.3:c.1079A>G VV NP_001027017.1:p.Glu360Gly
ENST00000265641.9:c.1079A>G ENSP00000265641.4:p.Glu360Gly
ENST00000376618.6:c.1079A>G ENSP00000365803.2:p.Glu360Gly
ENST00000539743.5:c.1079A>G ENSP00000446108.1:p.Glu360Gly
ENST00000540367.5:c.1079A>G ENSP00000439084.1:p.Glu360Gly