LDH info

Canonical Allele Identifier: CA5613337
Gene: PLCE1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 260724
dbSNP Id: rs3765524

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298541C>T , CM000672.2:g.94298541C>T GRCh38
NC_000010.10:g.96058298C>T , CM000672.1:g.96058298C>T GRCh37
NC_000010.9:g.96048288C>T NCBI36
NG_015799.1:g.309553C>T

Transcript Alleles

HGVS Amino-acid change
NM_001165979.2:c.4406C>T VV NP_001159451.1:p.Thr1469Ile
NM_001288989.1:c.5282C>T VV NP_001275918.1:p.Thr1761Ile
NM_016341.3:c.5330C>T VV NP_057425.3:p.Thr1777Ile
XM_006717885.2:c.5372C>T XP_006717948.1:p.Thr1791Ile
XM_006717886.2:c.5372C>T XP_006717949.1:p.Thr1791Ile
XM_006717888.2:c.5369C>T XP_006717951.1:p.Thr1790Ile
XM_006717889.2:c.5324C>T XP_006717952.1:p.Thr1775Ile
XM_006717890.1:c.4448C>T XP_006717953.1:p.Thr1483Ile
XM_011539849.1:c.5372C>T XP_011538151.1:p.Thr1791Ile
XM_011539850.1:c.4217C>T XP_011538152.1:p.Thr1406Ile
XM_006717885.4:c.5372C>T XP_006717948.1:p.Thr1791Ile
XM_006717888.4:c.5369C>T XP_006717951.1:p.Thr1790Ile
XM_006717889.4:c.5324C>T XP_006717952.1:p.Thr1775Ile
XM_006717890.3:c.4448C>T XP_006717953.1:p.Thr1483Ile
XM_011539849.3:c.5372C>T XP_011538151.1:p.Thr1791Ile
XM_011539850.3:c.4217C>T XP_011538152.1:p.Thr1406Ile
XM_017016310.2:c.5372C>T XP_016871799.1:p.Thr1791Ile
XM_017016311.2:c.5372C>T XP_016871800.1:p.Thr1791Ile
XM_017016312.2:c.4358C>T XP_016871801.1:p.Thr1453Ile
NM_001288989.2:c.5282C>T VV NP_001275918.1:p.Thr1761Ile
NM_016341.4:c.5330C>T VV MANE Preferred NP_057425.3:p.Thr1777Ile
ENST00000260766.7:c.5330C>T ENSP00000260766.3:p.Thr1777Ile
ENST00000371375.1:n.4406C>T ENSP00000360426.1:p.Thr1469Ile
ENST00000371380.7:c.5330C>T ENSP00000360431.2:p.Thr1777Ile
ENST00000371385.7:c.4406C>T ENSP00000360438.3:p.Thr1469Ile