Canonical Allele Identifier: CA377641896
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4359T>A ENSP00000360426.1:p.Asn1453Lys
ENST00000685253.1:c.*1826T>A ENSP00000509405.1:n.*1826T>A
ENST00000685889.1:n.2018T>A
ENST00000686807.1:n.702T>A
ENST00000686954.1:c.*567T>A ENSP00000508416.1:n.*567T>A
ENST00000688810.1:c.4311T>A ENSP00000509140.1:p.Asn1437Lys
ENST00000689233.1:n.9491T>A
ENST00000690340.1:n.2956T>A
ENST00000692286.1:c.5151T>A ENSP00000509490.1:p.Asn1717Lys
ENST00000692396.1:c.5235T>A ENSP00000508605.1:p.Asn1745Lys
ENST00000371380.8:c.5283T>A MANE Select ENSP00000360431.2:p.Asn1761Lys
ENST00000371385.8:c.4257T>A ENSP00000360438.4:p.Asn1419Lys
ENST00000674738.1:c.3838T>A
ENST00000674827.1:c.3399T>A ENSP00000502523.1:p.Asn1133Lys
ENST00000675218.1:c.4359T>A ENSP00000501910.1:p.Asn1453Lys
ENST00000675487.1:c.*1216T>A ENSP00000502340.1:n.*1216T>A
ENST00000675718.1:c.4552T>A
ENST00000260766.7:c.5283T>A ENSP00000260766.3:p.Asn1761Lys
ENST00000371375.1:c.4359T>A ENSP00000360426.1:p.Asn1453Lys
ENST00000371380.7:c.5283T>A ENSP00000360431.2:p.Asn1761Lys
ENST00000371385.7:c.4359T>A ENSP00000360438.3:p.Asn1453Lys
NM_001165979.2:c.4359T>A NP_001159451.1:p.Asn1453Lys
NM_001288989.1:c.5235T>A NP_001275918.1:p.Asn1745Lys
NM_016341.3:c.5283T>A NP_057425.3:p.Asn1761Lys
XM_006717885.2:c.5325T>A XP_006717948.1:p.Asn1775Lys
XM_006717886.2:c.5325T>A XP_006717949.1:p.Asn1775Lys
XM_006717888.2:c.5322T>A XP_006717951.1:p.Asn1774Lys
XM_006717889.2:c.5277T>A XP_006717952.1:p.Asn1759Lys
XM_006717890.1:c.4401T>A XP_006717953.1:p.Asn1467Lys
XM_011539849.1:c.5325T>A XP_011538151.1:p.Asn1775Lys
XM_011539850.1:c.4170T>A XP_011538152.1:p.Asn1390Lys
XM_006717885.4:c.5325T>A XP_006717948.1:p.Asn1775Lys
XM_006717888.4:c.5322T>A XP_006717951.1:p.Asn1774Lys
XM_006717889.4:c.5277T>A XP_006717952.1:p.Asn1759Lys
XM_006717890.3:c.4401T>A XP_006717953.1:p.Asn1467Lys
XM_011539849.3:c.5325T>A XP_011538151.1:p.Asn1775Lys
XM_011539850.3:c.4170T>A XP_011538152.1:p.Asn1390Lys
XM_017016310.2:c.5325T>A XP_016871799.1:p.Asn1775Lys
XM_017016311.2:c.5325T>A XP_016871800.1:p.Asn1775Lys
XM_017016312.2:c.4311T>A XP_016871801.1:p.Asn1437Lys
NM_001288989.2:c.5235T>A NP_001275918.1:p.Asn1745Lys
NM_016341.4:c.5283T>A MANE Select NP_057425.3:p.Asn1761Lys