Canonical Allele Identifier: CA377641889

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298490T>C , CM000672.2:g.94298490T>C	GRCh38
NC_000010.10:g.96058247T>C , CM000672.1:g.96058247T>C	GRCh37
NC_000010.9:g.96048237T>C	NCBI36
NG_015799.1:g.309502T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016341.4:c.5279T>C MANE Select	NP_057425.3:p.Leu1760Pro
ENST00000371380.8:c.5279T>C MANE Select	ENSP00000360431.2:p.Leu1760Pro
NM_001165979.2:c.4355T>C	NP_001159451.1:p.Leu1452Pro
NM_001288989.1:c.5231T>C	NP_001275918.1:p.Leu1744Pro
NM_001288989.2:c.5231T>C	NP_001275918.1:p.Leu1744Pro
NM_016341.3:c.5279T>C	NP_057425.3:p.Leu1760Pro
ENST00000260766.7:c.5279T>C	ENSP00000260766.3:p.Leu1760Pro
ENST00000371375.1:c.4355T>C	ENSP00000360426.1:p.Leu1452Pro
ENST00000371375.2:c.4355T>C	ENSP00000360426.1:p.Leu1452Pro
ENST00000371380.7:c.5279T>C	ENSP00000360431.2:p.Leu1760Pro
ENST00000371385.7:c.4355T>C	ENSP00000360438.3:p.Leu1452Pro
ENST00000371385.8:c.4253T>C	ENSP00000360438.4:p.Leu1418Pro
ENST00000674738.1:c.3834T>C
ENST00000674827.1:c.3395T>C	ENSP00000502523.1:p.Leu1132Pro
ENST00000675218.1:c.4355T>C	ENSP00000501910.1:p.Leu1452Pro
ENST00000675487.1:c.*1212T>C	ENSP00000502340.1:n.*1212T>C
ENST00000675718.1:c.4548T>C
ENST00000685253.1:c.*1822T>C	ENSP00000509405.1:n.*1822T>C
ENST00000685889.1:n.2014T>C
ENST00000686807.1:n.698T>C
ENST00000686954.1:c.*563T>C	ENSP00000508416.1:n.*563T>C
ENST00000688810.1:c.4307T>C	ENSP00000509140.1:p.Leu1436Pro
ENST00000689233.1:n.9487T>C
ENST00000690340.1:n.2952T>C
ENST00000692286.1:c.5147T>C	ENSP00000509490.1:p.Leu1716Pro
ENST00000692396.1:c.5231T>C	ENSP00000508605.1:p.Leu1744Pro
XM_006717885.2:c.5321T>C	XP_006717948.1:p.Leu1774Pro
XM_006717885.4:c.5321T>C	XP_006717948.1:p.Leu1774Pro
XM_006717886.2:c.5321T>C	XP_006717949.1:p.Leu1774Pro
XM_006717888.2:c.5318T>C	XP_006717951.1:p.Leu1773Pro
XM_006717888.4:c.5318T>C	XP_006717951.1:p.Leu1773Pro
XM_006717889.2:c.5273T>C	XP_006717952.1:p.Leu1758Pro
XM_006717889.4:c.5273T>C	XP_006717952.1:p.Leu1758Pro
XM_006717890.1:c.4397T>C	XP_006717953.1:p.Leu1466Pro
XM_006717890.3:c.4397T>C	XP_006717953.1:p.Leu1466Pro
XM_011539849.1:c.5321T>C	XP_011538151.1:p.Leu1774Pro
XM_011539849.3:c.5321T>C	XP_011538151.1:p.Leu1774Pro
XM_011539850.1:c.4166T>C	XP_011538152.1:p.Leu1389Pro
XM_011539850.3:c.4166T>C	XP_011538152.1:p.Leu1389Pro
XM_017016310.2:c.5321T>C	XP_016871799.1:p.Leu1774Pro
XM_017016311.2:c.5321T>C	XP_016871800.1:p.Leu1774Pro
XM_017016312.2:c.4307T>C	XP_016871801.1:p.Leu1436Pro