Canonical Allele Identifier: CA377642286
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298645G>T , CM000672.2:g.94298645G>T GRCh38
NC_000010.10:g.96058402G>T , CM000672.1:g.96058402G>T GRCh37
NC_000010.9:g.96048392G>T NCBI36
NG_015799.1:g.309657G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4510G>T ENSP00000360426.1:p.Val1504Leu
ENST00000685253.1:c.*1977G>T ENSP00000509405.1:n.*1977G>T
ENST00000685889.1:n.2169G>T
ENST00000686807.1:n.853G>T
ENST00000686954.1:c.*718G>T ENSP00000508416.1:n.*718G>T
ENST00000688810.1:c.4462G>T ENSP00000509140.1:p.Val1488Leu
ENST00000689233.1:n.9642G>T
ENST00000690340.1:n.3107G>T
ENST00000692286.1:c.5302G>T ENSP00000509490.1:p.Val1768Leu
ENST00000692396.1:c.5386G>T ENSP00000508605.1:p.Val1796Leu
ENST00000371380.8:c.5434G>T MANE Select ENSP00000360431.2:p.Val1812Leu
ENST00000371385.8:c.4408G>T ENSP00000360438.4:p.Val1470Leu
ENST00000674738.1:c.3989G>T
ENST00000674827.1:c.3550G>T ENSP00000502523.1:p.Val1184Leu
ENST00000675218.1:c.4510G>T ENSP00000501910.1:p.Val1504Leu
ENST00000675487.1:c.*1367G>T ENSP00000502340.1:n.*1367G>T
ENST00000675718.1:c.4703G>T
ENST00000260766.7:c.5434G>T ENSP00000260766.3:p.Val1812Leu
ENST00000371375.1:c.4510G>T ENSP00000360426.1:p.Val1504Leu
ENST00000371380.7:c.5434G>T ENSP00000360431.2:p.Val1812Leu
ENST00000371385.7:c.4510G>T ENSP00000360438.3:p.Val1504Leu
NM_001165979.2:c.4510G>T NP_001159451.1:p.Val1504Leu
NM_001288989.1:c.5386G>T NP_001275918.1:p.Val1796Leu
NM_016341.3:c.5434G>T NP_057425.3:p.Val1812Leu
XM_006717885.2:c.5476G>T XP_006717948.1:p.Val1826Leu
XM_006717886.2:c.5476G>T XP_006717949.1:p.Val1826Leu
XM_006717888.2:c.5473G>T XP_006717951.1:p.Val1825Leu
XM_006717889.2:c.5428G>T XP_006717952.1:p.Val1810Leu
XM_006717890.1:c.4552G>T XP_006717953.1:p.Val1518Leu
XM_011539849.1:c.5476G>T XP_011538151.1:p.Val1826Leu
XM_011539850.1:c.4321G>T XP_011538152.1:p.Val1441Leu
XM_006717885.4:c.5476G>T XP_006717948.1:p.Val1826Leu
XM_006717888.4:c.5473G>T XP_006717951.1:p.Val1825Leu
XM_006717889.4:c.5428G>T XP_006717952.1:p.Val1810Leu
XM_006717890.3:c.4552G>T XP_006717953.1:p.Val1518Leu
XM_011539849.3:c.5476G>T XP_011538151.1:p.Val1826Leu
XM_011539850.3:c.4321G>T XP_011538152.1:p.Val1441Leu
XM_017016310.2:c.5476G>T XP_016871799.1:p.Val1826Leu
XM_017016311.2:c.5476G>T XP_016871800.1:p.Val1826Leu
XM_017016312.2:c.4462G>T XP_016871801.1:p.Val1488Leu
NM_001288989.2:c.5386G>T NP_001275918.1:p.Val1796Leu
NM_016341.4:c.5434G>T MANE Select NP_057425.3:p.Val1812Leu