LDH info

Canonical Allele Identifier: CA000350
Gene: PTEN HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7826
dbSNP Id: rs121909226
COSMIC: COSM5108

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87925557T>C , CM000672.2:g.87925557T>C GRCh38
NC_000010.10:g.89685314T>C , CM000672.1:g.89685314T>C GRCh37
NC_000010.9:g.89675294T>C NCBI36
NG_007466.2:g.67119T>C , LRG_311:g.67119T>C

Transcript Alleles

HGVS Amino-acid change
NM_000314.5:c.209T>C VV NP_000305.3:p.Leu70Pro
NM_000314.6:c.209T>C VV NP_000305.3:p.Leu70Pro
NM_001304717.2:c.728T>C VV NP_001291646.2:p.Leu243Pro
NM_001304718.1:c.-541-5489T>C VV NP_001291647.1:p.=
XM_006717926.2:c.165-5489T>C XP_006717989.1:p.=
XM_011539981.1:c.209T>C XP_011538283.1:p.Leu70Pro
XM_011539982.1:c.113T>C XP_011538284.1:p.Leu38Pro
XR_945789.1:n.921T>C
XR_945790.1:n.921T>C
XR_945791.1:n.921T>C
NM_000314.7:c.209T>C VV NP_000305.3:p.Leu70Pro
NM_001304717.5:c.728T>C VV NP_001291646.4:p.Leu243Pro
NM_001304718.2:c.-541-5489T>C VV NP_001291647.1:p.=
NM_000314.8:c.209T>C VV MANE Preferred NP_000305.3:p.Leu70Pro
ENST00000371953.7:c.209T>C ENSP00000361021.3:p.Leu70Pro
ENST00000498703.1:n.35T>C
ENST00000610634.1:c.107T>C ENSP00000477517.1:p.Leu36Pro