Canonical Allele Identifier: CA377640685

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96053330T>A (hg19) ; chr10:g.94293573T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293573T>A , CM000672.2:g.94293573T>A	GRCh38
NC_000010.10:g.96053330T>A , CM000672.1:g.96053330T>A	GRCh37
NC_000010.9:g.96043320T>A	NCBI36
NG_015799.1:g.304585T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4177T>A	ENSP00000360426.1:p.Phe1393Ile
ENST00000685253.1:c.*1644T>A	ENSP00000509405.1:n.*1644T>A
ENST00000685889.1:n.1836T>A
ENST00000686807.1:n.520T>A
ENST00000686954.1:c.*385T>A	ENSP00000508416.1:n.*385T>A
ENST00000688810.1:c.4129T>A	ENSP00000509140.1:p.Phe1377Ile
ENST00000689233.1:n.9309T>A
ENST00000690340.1:n.2774T>A
ENST00000692286.1:c.5036-4806T>A	ENSP00000509490.1:n.5036-4806T>A
ENST00000692396.1:c.5053T>A	ENSP00000508605.1:p.Phe1685Ile
ENST00000371380.8:c.5101T>A MANE Select	ENSP00000360431.2:p.Phe1701Ile
ENST00000371385.8:c.4075T>A	ENSP00000360438.4:p.Phe1359Ile
ENST00000674738.1:c.3656T>A
ENST00000674827.1:c.3217T>A	ENSP00000502523.1:p.Phe1073Ile
ENST00000675218.1:c.4177T>A	ENSP00000501910.1:p.Phe1393Ile
ENST00000675487.1:c.*1034T>A	ENSP00000502340.1:n.*1034T>A
ENST00000675718.1:c.4370T>A
ENST00000676102.1:c.3946T>A	ENSP00000502811.1:p.Phe1316Ile
ENST00000260766.7:c.5101T>A	ENSP00000260766.3:p.Phe1701Ile
ENST00000371375.1:c.4177T>A	ENSP00000360426.1:p.Phe1393Ile
ENST00000371380.7:c.5101T>A	ENSP00000360431.2:p.Phe1701Ile
ENST00000371385.7:c.4177T>A	ENSP00000360438.3:p.Phe1393Ile
NM_001165979.2:c.4177T>A	NP_001159451.1:p.Phe1393Ile
NM_001288989.1:c.5053T>A	NP_001275918.1:p.Phe1685Ile
NM_016341.3:c.5101T>A	NP_057425.3:p.Phe1701Ile
XM_006717885.2:c.5143T>A	XP_006717948.1:p.Phe1715Ile
XM_006717886.2:c.5143T>A	XP_006717949.1:p.Phe1715Ile
XM_006717888.2:c.5140T>A	XP_006717951.1:p.Phe1714Ile
XM_006717889.2:c.5095T>A	XP_006717952.1:p.Phe1699Ile
XM_006717890.1:c.4219T>A	XP_006717953.1:p.Phe1407Ile
XM_011539849.1:c.5143T>A	XP_011538151.1:p.Phe1715Ile
XM_011539850.1:c.3988T>A	XP_011538152.1:p.Phe1330Ile
XM_006717885.4:c.5143T>A	XP_006717948.1:p.Phe1715Ile
XM_006717888.4:c.5140T>A	XP_006717951.1:p.Phe1714Ile
XM_006717889.4:c.5095T>A	XP_006717952.1:p.Phe1699Ile
XM_006717890.3:c.4219T>A	XP_006717953.1:p.Phe1407Ile
XM_011539849.3:c.5143T>A	XP_011538151.1:p.Phe1715Ile
XM_011539850.3:c.3988T>A	XP_011538152.1:p.Phe1330Ile
XM_017016310.2:c.5143T>A	XP_016871799.1:p.Phe1715Ile
XM_017016311.2:c.5143T>A	XP_016871800.1:p.Phe1715Ile
XM_017016312.2:c.4129T>A	XP_016871801.1:p.Phe1377Ile
NM_001288989.2:c.5053T>A	NP_001275918.1:p.Phe1685Ile
NM_016341.4:c.5101T>A MANE Select	NP_057425.3:p.Phe1701Ile