Canonical Allele Identifier: CA470986476

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298467C>G , CM000672.2:g.94298467C>G	GRCh38
NC_000010.10:g.96058224C>G , CM000672.1:g.96058224C>G	GRCh37
NC_000010.9:g.96048214C>G	NCBI36
NG_015799.1:g.309479C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_016341.4:c.5256C>G MANE Select	NP_057425.3:p.Pro1752=
ENST00000371380.8:c.5256C>G MANE Select	ENSP00000360431.2:p.Pro1752=
NM_001165979.2:c.4332C>G	NP_001159451.1:p.Pro1444=
NM_001288989.1:c.5208C>G	NP_001275918.1:p.Pro1736=
NM_001288989.2:c.5208C>G	NP_001275918.1:p.Pro1736=
NM_016341.3:c.5256C>G	NP_057425.3:p.Pro1752=
ENST00000260766.7:c.5256C>G	ENSP00000260766.3:p.Pro1752=
ENST00000371375.1:c.4332C>G	ENSP00000360426.1:p.Pro1444=
ENST00000371375.2:c.4332C>G	ENSP00000360426.1:p.Pro1444=
ENST00000371380.7:c.5256C>G	ENSP00000360431.2:p.Pro1752=
ENST00000371385.7:c.4332C>G	ENSP00000360438.3:p.Pro1444=
ENST00000371385.8:c.4230C>G	ENSP00000360438.4:p.Pro1410=
ENST00000674738.1:c.3811C>G
ENST00000674827.1:c.3372C>G	ENSP00000502523.1:p.Pro1124=
ENST00000675218.1:c.4332C>G	ENSP00000501910.1:p.Pro1444=
ENST00000675487.1:c.*1189C>G	ENSP00000502340.1:n.*1189C>G
ENST00000675718.1:c.4525C>G
ENST00000676102.1:c.4101C>G	ENSP00000502811.1:p.Pro1367=
ENST00000685253.1:c.*1799C>G	ENSP00000509405.1:n.*1799C>G
ENST00000685889.1:n.1991C>G
ENST00000686807.1:n.675C>G
ENST00000686954.1:c.*540C>G	ENSP00000508416.1:n.*540C>G
ENST00000688810.1:c.4284C>G	ENSP00000509140.1:p.Pro1428=
ENST00000689233.1:n.9464C>G
ENST00000690340.1:n.2929C>G
ENST00000692286.1:c.5124C>G	ENSP00000509490.1:p.Pro1708=
ENST00000692396.1:c.5208C>G	ENSP00000508605.1:p.Pro1736=
XM_006717885.2:c.5298C>G	XP_006717948.1:p.Pro1766=
XM_006717885.4:c.5298C>G	XP_006717948.1:p.Pro1766=
XM_006717886.2:c.5298C>G	XP_006717949.1:p.Pro1766=
XM_006717888.2:c.5295C>G	XP_006717951.1:p.Pro1765=
XM_006717888.4:c.5295C>G	XP_006717951.1:p.Pro1765=
XM_006717889.2:c.5250C>G	XP_006717952.1:p.Pro1750=
XM_006717889.4:c.5250C>G	XP_006717952.1:p.Pro1750=
XM_006717890.1:c.4374C>G	XP_006717953.1:p.Pro1458=
XM_006717890.3:c.4374C>G	XP_006717953.1:p.Pro1458=
XM_011539849.1:c.5298C>G	XP_011538151.1:p.Pro1766=
XM_011539849.3:c.5298C>G	XP_011538151.1:p.Pro1766=
XM_011539850.1:c.4143C>G	XP_011538152.1:p.Pro1381=
XM_011539850.3:c.4143C>G	XP_011538152.1:p.Pro1381=
XM_017016310.2:c.5298C>G	XP_016871799.1:p.Pro1766=
XM_017016311.2:c.5298C>G	XP_016871800.1:p.Pro1766=
XM_017016312.2:c.4284C>G	XP_016871801.1:p.Pro1428=