LDH info

Canonical Allele Identifier: CA344989
Gene: CPT1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 65657
ClinVar RCV Id: RCV000055870
dbSNP Id: rs80356776

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68793341G>A , CM000673.2:g.68793341G>A GRCh38
NC_000011.9:g.68560809G>A , CM000673.1:g.68560809G>A GRCh37
NC_000011.8:g.68317385G>A NCBI36
NG_011801.1:g.53591C>T

Transcript Alleles

HGVS Amino-acid change
NM_001031847.2:c.941C>T VV NP_001027017.1:p.Thr314Ile
NM_001876.3:c.941C>T VV NP_001867.2:p.Thr314Ile
XM_005273762.1:c.1037C>T XP_005273819.1:p.Thr346Ile
XM_005273763.1:c.1037C>T XP_005273820.1:p.Thr346Ile
XM_005273762.3:c.1037C>T XP_005273819.1:p.Thr346Ile
XM_017017220.1:c.941C>T XP_016872709.1:p.Thr314Ile
NM_001876.4:c.941C>T VV MANE Preferred NP_001867.2:p.Thr314Ile
NM_001031847.3:c.941C>T VV NP_001027017.1:p.Thr314Ile
ENST00000265641.9:c.941C>T ENSP00000265641.4:p.Thr314Ile
ENST00000376618.6:c.941C>T ENSP00000365803.2:p.Thr314Ile
ENST00000538994.1:c.197C>T ENSP00000454332.1:p.Thr66Ile
ENST00000539743.5:c.941C>T ENSP00000446108.1:p.Thr314Ile
ENST00000540367.5:c.941C>T ENSP00000439084.1:p.Thr314Ile