Canonical Allele Identifier: CA211599662
Gene: PLCE1 HGNC NCBI

Linked Data

dbSNP Id: rs201978454

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298494T>C , CM000672.2:g.94298494T>C GRCh38
NC_000010.10:g.96058251T>C , CM000672.1:g.96058251T>C GRCh37
NC_000010.9:g.96048241T>C NCBI36
NG_015799.1:g.309506T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4359T>C ENSP00000360426.1:p.Asn1453=
ENST00000685253.1:c.*1826T>C ENSP00000509405.1:n.*1826T>C
ENST00000685889.1:n.2018T>C
ENST00000686807.1:n.702T>C
ENST00000686954.1:c.*567T>C ENSP00000508416.1:n.*567T>C
ENST00000688810.1:c.4311T>C ENSP00000509140.1:p.Asn1437=
ENST00000689233.1:n.9491T>C
ENST00000690340.1:n.2956T>C
ENST00000692286.1:c.5151T>C ENSP00000509490.1:p.Asn1717=
ENST00000692396.1:c.5235T>C ENSP00000508605.1:p.Asn1745=
ENST00000371380.8:c.5283T>C MANE Select ENSP00000360431.2:p.Asn1761=
ENST00000371385.8:c.4257T>C ENSP00000360438.4:p.Asn1419=
ENST00000674738.1:c.3838T>C
ENST00000674827.1:c.3399T>C ENSP00000502523.1:p.Asn1133=
ENST00000675218.1:c.4359T>C ENSP00000501910.1:p.Asn1453=
ENST00000675487.1:c.*1216T>C ENSP00000502340.1:n.*1216T>C
ENST00000675718.1:c.4552T>C
ENST00000260766.7:c.5283T>C ENSP00000260766.3:p.Asn1761=
ENST00000371375.1:c.4359T>C ENSP00000360426.1:p.Asn1453=
ENST00000371380.7:c.5283T>C ENSP00000360431.2:p.Asn1761=
ENST00000371385.7:c.4359T>C ENSP00000360438.3:p.Asn1453=
NM_001165979.2:c.4359T>C NP_001159451.1:p.Asn1453=
NM_001288989.1:c.5235T>C NP_001275918.1:p.Asn1745=
NM_016341.3:c.5283T>C NP_057425.3:p.Asn1761=
XM_006717885.2:c.5325T>C XP_006717948.1:p.Asn1775=
XM_006717886.2:c.5325T>C XP_006717949.1:p.Asn1775=
XM_006717888.2:c.5322T>C XP_006717951.1:p.Asn1774=
XM_006717889.2:c.5277T>C XP_006717952.1:p.Asn1759=
XM_006717890.1:c.4401T>C XP_006717953.1:p.Asn1467=
XM_011539849.1:c.5325T>C XP_011538151.1:p.Asn1775=
XM_011539850.1:c.4170T>C XP_011538152.1:p.Asn1390=
XM_006717885.4:c.5325T>C XP_006717948.1:p.Asn1775=
XM_006717888.4:c.5322T>C XP_006717951.1:p.Asn1774=
XM_006717889.4:c.5277T>C XP_006717952.1:p.Asn1759=
XM_006717890.3:c.4401T>C XP_006717953.1:p.Asn1467=
XM_011539849.3:c.5325T>C XP_011538151.1:p.Asn1775=
XM_011539850.3:c.4170T>C XP_011538152.1:p.Asn1390=
XM_017016310.2:c.5325T>C XP_016871799.1:p.Asn1775=
XM_017016311.2:c.5325T>C XP_016871800.1:p.Asn1775=
XM_017016312.2:c.4311T>C XP_016871801.1:p.Asn1437=
NM_001288989.2:c.5235T>C NP_001275918.1:p.Asn1745=
NM_016341.4:c.5283T>C MANE Select NP_057425.3:p.Asn1761=