Canonical Allele Identifier: CA377642175

Gene: PLCE1

Linked Data

• dbSNP Id: rs2052926302
• MyVariant Identifiers: chr10:g.96058378T>A (hg19) ; chr10:g.94298621T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298621T>A , CM000672.2:g.94298621T>A	GRCh38
NC_000010.10:g.96058378T>A , CM000672.1:g.96058378T>A	GRCh37
NC_000010.9:g.96048368T>A	NCBI36
NG_015799.1:g.309633T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4486T>A	ENSP00000360426.1:p.Phe1496Ile
ENST00000685253.1:c.*1953T>A	ENSP00000509405.1:n.*1953T>A
ENST00000685889.1:n.2145T>A
ENST00000686807.1:n.829T>A
ENST00000686954.1:c.*694T>A	ENSP00000508416.1:n.*694T>A
ENST00000688810.1:c.4438T>A	ENSP00000509140.1:p.Phe1480Ile
ENST00000689233.1:n.9618T>A
ENST00000690340.1:n.3083T>A
ENST00000692286.1:c.5278T>A	ENSP00000509490.1:p.Phe1760Ile
ENST00000692396.1:c.5362T>A	ENSP00000508605.1:p.Phe1788Ile
ENST00000371380.8:c.5410T>A MANE Select	ENSP00000360431.2:p.Phe1804Ile
ENST00000371385.8:c.4384T>A	ENSP00000360438.4:p.Phe1462Ile
ENST00000674738.1:c.3965T>A
ENST00000674827.1:c.3526T>A	ENSP00000502523.1:p.Phe1176Ile
ENST00000675218.1:c.4486T>A	ENSP00000501910.1:p.Phe1496Ile
ENST00000675487.1:c.*1343T>A	ENSP00000502340.1:n.*1343T>A
ENST00000675718.1:c.4679T>A
ENST00000260766.7:c.5410T>A	ENSP00000260766.3:p.Phe1804Ile
ENST00000371375.1:c.4486T>A	ENSP00000360426.1:p.Phe1496Ile
ENST00000371380.7:c.5410T>A	ENSP00000360431.2:p.Phe1804Ile
ENST00000371385.7:c.4486T>A	ENSP00000360438.3:p.Phe1496Ile
NM_001165979.2:c.4486T>A	NP_001159451.1:p.Phe1496Ile
NM_001288989.1:c.5362T>A	NP_001275918.1:p.Phe1788Ile
NM_016341.3:c.5410T>A	NP_057425.3:p.Phe1804Ile
XM_006717885.2:c.5452T>A	XP_006717948.1:p.Phe1818Ile
XM_006717886.2:c.5452T>A	XP_006717949.1:p.Phe1818Ile
XM_006717888.2:c.5449T>A	XP_006717951.1:p.Phe1817Ile
XM_006717889.2:c.5404T>A	XP_006717952.1:p.Phe1802Ile
XM_006717890.1:c.4528T>A	XP_006717953.1:p.Phe1510Ile
XM_011539849.1:c.5452T>A	XP_011538151.1:p.Phe1818Ile
XM_011539850.1:c.4297T>A	XP_011538152.1:p.Phe1433Ile
XM_006717885.4:c.5452T>A	XP_006717948.1:p.Phe1818Ile
XM_006717888.4:c.5449T>A	XP_006717951.1:p.Phe1817Ile
XM_006717889.4:c.5404T>A	XP_006717952.1:p.Phe1802Ile
XM_006717890.3:c.4528T>A	XP_006717953.1:p.Phe1510Ile
XM_011539849.3:c.5452T>A	XP_011538151.1:p.Phe1818Ile
XM_011539850.3:c.4297T>A	XP_011538152.1:p.Phe1433Ile
XM_017016310.2:c.5452T>A	XP_016871799.1:p.Phe1818Ile
XM_017016311.2:c.5452T>A	XP_016871800.1:p.Phe1818Ile
XM_017016312.2:c.4438T>A	XP_016871801.1:p.Phe1480Ile
NM_001288989.2:c.5362T>A	NP_001275918.1:p.Phe1788Ile
NM_016341.4:c.5410T>A MANE Select	NP_057425.3:p.Phe1804Ile