Canonical Allele Identifier: CA470986413
Gene: PLCE1 HGNC NCBI

Linked Data

dbSNP Id: rs1274430239

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298404C>G , CM000672.2:g.94298404C>G GRCh38
NC_000010.10:g.96058161C>G , CM000672.1:g.96058161C>G GRCh37
NC_000010.9:g.96048151C>G NCBI36
NG_015799.1:g.309416C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4269C>G ENSP00000360426.1:p.Thr1423=
ENST00000685253.1:c.*1736C>G ENSP00000509405.1:n.*1736C>G
ENST00000685889.1:n.1928C>G
ENST00000686807.1:n.612C>G
ENST00000686954.1:c.*477C>G ENSP00000508416.1:n.*477C>G
ENST00000688810.1:c.4221C>G ENSP00000509140.1:p.Thr1407=
ENST00000689233.1:n.9401C>G
ENST00000690340.1:n.2866C>G
ENST00000692286.1:c.5061C>G ENSP00000509490.1:p.Thr1687=
ENST00000692396.1:c.5145C>G ENSP00000508605.1:p.Thr1715=
ENST00000371380.8:c.5193C>G MANE Select ENSP00000360431.2:p.Thr1731=
ENST00000371385.8:c.4167C>G ENSP00000360438.4:p.Thr1389=
ENST00000674738.1:c.3748C>G
ENST00000674827.1:c.3309C>G ENSP00000502523.1:p.Thr1103=
ENST00000675218.1:c.4269C>G ENSP00000501910.1:p.Thr1423=
ENST00000675487.1:c.*1126C>G ENSP00000502340.1:n.*1126C>G
ENST00000675718.1:c.4462C>G
ENST00000676102.1:c.4038C>G ENSP00000502811.1:p.Thr1346=
ENST00000260766.7:c.5193C>G ENSP00000260766.3:p.Thr1731=
ENST00000371375.1:c.4269C>G ENSP00000360426.1:p.Thr1423=
ENST00000371380.7:c.5193C>G ENSP00000360431.2:p.Thr1731=
ENST00000371385.7:c.4269C>G ENSP00000360438.3:p.Thr1423=
NM_001165979.2:c.4269C>G NP_001159451.1:p.Thr1423=
NM_001288989.1:c.5145C>G NP_001275918.1:p.Thr1715=
NM_016341.3:c.5193C>G NP_057425.3:p.Thr1731=
XM_006717885.2:c.5235C>G XP_006717948.1:p.Thr1745=
XM_006717886.2:c.5235C>G XP_006717949.1:p.Thr1745=
XM_006717888.2:c.5232C>G XP_006717951.1:p.Thr1744=
XM_006717889.2:c.5187C>G XP_006717952.1:p.Thr1729=
XM_006717890.1:c.4311C>G XP_006717953.1:p.Thr1437=
XM_011539849.1:c.5235C>G XP_011538151.1:p.Thr1745=
XM_011539850.1:c.4080C>G XP_011538152.1:p.Thr1360=
XM_006717885.4:c.5235C>G XP_006717948.1:p.Thr1745=
XM_006717888.4:c.5232C>G XP_006717951.1:p.Thr1744=
XM_006717889.4:c.5187C>G XP_006717952.1:p.Thr1729=
XM_006717890.3:c.4311C>G XP_006717953.1:p.Thr1437=
XM_011539849.3:c.5235C>G XP_011538151.1:p.Thr1745=
XM_011539850.3:c.4080C>G XP_011538152.1:p.Thr1360=
XM_017016310.2:c.5235C>G XP_016871799.1:p.Thr1745=
XM_017016311.2:c.5235C>G XP_016871800.1:p.Thr1745=
XM_017016312.2:c.4221C>G XP_016871801.1:p.Thr1407=
NM_001288989.2:c.5145C>G NP_001275918.1:p.Thr1715=
NM_016341.4:c.5193C>G MANE Select NP_057425.3:p.Thr1731=