Canonical Allele Identifier: CA377642072

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298577C>A , CM000672.2:g.94298577C>A	GRCh38
NC_000010.10:g.96058334C>A , CM000672.1:g.96058334C>A	GRCh37
NC_000010.9:g.96048324C>A	NCBI36
NG_015799.1:g.309589C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016341.4:c.5366C>A MANE Select	NP_057425.3:p.Pro1789His
ENST00000371380.8:c.5366C>A MANE Select	ENSP00000360431.2:p.Pro1789His
NM_001165979.2:c.4442C>A	NP_001159451.1:p.Pro1481His
NM_001288989.1:c.5318C>A	NP_001275918.1:p.Pro1773His
NM_001288989.2:c.5318C>A	NP_001275918.1:p.Pro1773His
NM_016341.3:c.5366C>A	NP_057425.3:p.Pro1789His
ENST00000260766.7:c.5366C>A	ENSP00000260766.3:p.Pro1789His
ENST00000371375.1:c.4442C>A	ENSP00000360426.1:p.Pro1481His
ENST00000371375.2:c.4442C>A	ENSP00000360426.1:p.Pro1481His
ENST00000371380.7:c.5366C>A	ENSP00000360431.2:p.Pro1789His
ENST00000371385.7:c.4442C>A	ENSP00000360438.3:p.Pro1481His
ENST00000371385.8:c.4340C>A	ENSP00000360438.4:p.Pro1447His
ENST00000674738.1:c.3921C>A
ENST00000674827.1:c.3482C>A	ENSP00000502523.1:p.Pro1161His
ENST00000675218.1:c.4442C>A	ENSP00000501910.1:p.Pro1481His
ENST00000675487.1:c.*1299C>A	ENSP00000502340.1:n.*1299C>A
ENST00000675718.1:c.4635C>A
ENST00000685253.1:c.*1909C>A	ENSP00000509405.1:n.*1909C>A
ENST00000685889.1:n.2101C>A
ENST00000686807.1:n.785C>A
ENST00000686954.1:c.*650C>A	ENSP00000508416.1:n.*650C>A
ENST00000688810.1:c.4394C>A	ENSP00000509140.1:p.Pro1465His
ENST00000689233.1:n.9574C>A
ENST00000690340.1:n.3039C>A
ENST00000692286.1:c.5234C>A	ENSP00000509490.1:p.Pro1745His
ENST00000692396.1:c.5318C>A	ENSP00000508605.1:p.Pro1773His
XM_006717885.2:c.5408C>A	XP_006717948.1:p.Pro1803His
XM_006717885.4:c.5408C>A	XP_006717948.1:p.Pro1803His
XM_006717886.2:c.5408C>A	XP_006717949.1:p.Pro1803His
XM_006717888.2:c.5405C>A	XP_006717951.1:p.Pro1802His
XM_006717888.4:c.5405C>A	XP_006717951.1:p.Pro1802His
XM_006717889.2:c.5360C>A	XP_006717952.1:p.Pro1787His
XM_006717889.4:c.5360C>A	XP_006717952.1:p.Pro1787His
XM_006717890.1:c.4484C>A	XP_006717953.1:p.Pro1495His
XM_006717890.3:c.4484C>A	XP_006717953.1:p.Pro1495His
XM_011539849.1:c.5408C>A	XP_011538151.1:p.Pro1803His
XM_011539849.3:c.5408C>A	XP_011538151.1:p.Pro1803His
XM_011539850.1:c.4253C>A	XP_011538152.1:p.Pro1418His
XM_011539850.3:c.4253C>A	XP_011538152.1:p.Pro1418His
XM_017016310.2:c.5408C>A	XP_016871799.1:p.Pro1803His
XM_017016311.2:c.5408C>A	XP_016871800.1:p.Pro1803His
XM_017016312.2:c.4394C>A	XP_016871801.1:p.Pro1465His