LDH info

Canonical Allele Identifier: CA279050
Gene: PTEN HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 216987
dbSNP Id: rs863224909
COSMIC: COSM86061

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960952C>G , CM000672.2:g.87960952C>G GRCh38
NC_000010.10:g.89720709C>G , CM000672.1:g.89720709C>G GRCh37
NC_000010.9:g.89710689C>G NCBI36
NG_007466.2:g.102514C>G , LRG_311:g.102514C>G

Transcript Alleles

HGVS Amino-acid change
NM_000314.5:c.860C>G VV NP_000305.3:p.Ser287Ter
NM_000314.6:c.860C>G VV NP_000305.3:p.Ser287Ter
NM_001304717.2:c.1379C>G VV NP_001291646.2:p.Ser460Ter
NM_001304718.1:c.269C>G VV NP_001291647.1:p.Ser90Ter
XM_006717926.2:c.815C>G XP_006717989.1:p.Ser272Ter
XM_011539981.1:c.860C>G XP_011538283.1:p.Ser287Ter
XM_011539982.1:c.764C>G XP_011538284.1:p.Ser255Ter
XR_945791.1:n.1430C>G
NM_000314.7:c.860C>G VV NP_000305.3:p.Ser287Ter
NM_001304717.5:c.1379C>G VV NP_001291646.4:p.Ser460Ter
NM_001304718.2:c.269C>G VV NP_001291647.1:p.Ser90Ter
ENST00000371953.7:c.860C>G ENSP00000361021.3:p.Ser287Ter
ENST00000472832.2:n.287C>G ENSP00000483066.1:p.Ser96Ter