LDH info

Canonical Allele Identifier: CA115499

Identifiers and link-outs to other resources

ClinVar Variation Id: 18422
ClinVar RCV Id: RCV000002442
dbSNP Id: rs267606953

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94322006C>T , CM000672.2:g.94322006C>T GRCh38
NC_000010.10:g.96081763C>T , CM000672.1:g.96081763C>T GRCh37
NC_000010.9:g.96071753C>T NCBI36
NG_015799.1:g.333018C>T

Transcript Alleles

HGVS Amino-acid change
NM_001165979.2:c.5524C>T (PLCE1) VV NP_001159451.1:p.Arg1842Ter
NM_001288989.1:c.6400C>T (PLCE1) VV NP_001275918.1:p.Arg2134Ter
NM_016341.3:c.6448C>T (PLCE1) VV NP_057425.3:p.Arg2150Ter
XM_006717885.2:c.6490C>T (PLCE1) XP_006717948.1:p.Arg2164Ter
XM_006717886.2:c.6490C>T (PLCE1) XP_006717949.1:p.Arg2164Ter
XM_006717888.2:c.6487C>T (PLCE1) XP_006717951.1:p.Arg2163Ter
XM_006717889.2:c.6442C>T (PLCE1) XP_006717952.1:p.Arg2148Ter
XM_006717890.1:c.5566C>T (PLCE1) XP_006717953.1:p.Arg1856Ter
XM_011539849.1:c.6490C>T (PLCE1) XP_011538151.1:p.Arg2164Ter
XM_011539850.1:c.5335C>T (PLCE1) XP_011538152.1:p.Arg1779Ter
XR_945799.1:n.3311-6542G>A (NOC3L)
XM_006717885.4:c.6490C>T (PLCE1) XP_006717948.1:p.Arg2164Ter
XM_006717888.4:c.6487C>T (PLCE1) XP_006717951.1:p.Arg2163Ter
XM_006717889.4:c.6442C>T (PLCE1) XP_006717952.1:p.Arg2148Ter
XM_006717890.3:c.5566C>T (PLCE1) XP_006717953.1:p.Arg1856Ter
XM_011539849.3:c.6490C>T (PLCE1) XP_011538151.1:p.Arg2164Ter
XM_011539850.3:c.5335C>T (PLCE1) XP_011538152.1:p.Arg1779Ter
XM_017016310.2:c.6490C>T (PLCE1) XP_016871799.1:p.Arg2164Ter
XM_017016311.2:c.6490C>T (PLCE1) XP_016871800.1:p.Arg2164Ter
XM_017016312.2:c.5476C>T (PLCE1) XP_016871801.1:p.Arg1826Ter
XR_002957007.1:n.3312-6542G>A (NOC3L)
NM_001288989.2:c.6400C>T (PLCE1) VV NP_001275918.1:p.Arg2134Ter
NM_016341.4:c.6448C>T (PLCE1) VV NP_057425.3:p.Arg2150Ter
ENST00000260766.7:c.6448C>T ENSP00000260766.3:p.Arg2150Ter
ENST00000371375.1:n.5524C>T ENSP00000360426.1:p.Arg1842Ter
ENST00000371380.7:c.6448C>T ENSP00000360431.2:p.Arg2150Ter
ENST00000371385.7:c.5524C>T ENSP00000360438.3:p.Arg1842Ter