Canonical Allele Identifier: CA377641828

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298463C>T , CM000672.2:g.94298463C>T	GRCh38
NC_000010.10:g.96058220C>T , CM000672.1:g.96058220C>T	GRCh37
NC_000010.9:g.96048210C>T	NCBI36
NG_015799.1:g.309475C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016341.4:c.5252C>T MANE Select	NP_057425.3:p.Thr1751Ile
ENST00000371380.8:c.5252C>T MANE Select	ENSP00000360431.2:p.Thr1751Ile
NM_001165979.2:c.4328C>T	NP_001159451.1:p.Thr1443Ile
NM_001288989.1:c.5204C>T	NP_001275918.1:p.Thr1735Ile
NM_001288989.2:c.5204C>T	NP_001275918.1:p.Thr1735Ile
NM_016341.3:c.5252C>T	NP_057425.3:p.Thr1751Ile
ENST00000260766.7:c.5252C>T	ENSP00000260766.3:p.Thr1751Ile
ENST00000371375.1:c.4328C>T	ENSP00000360426.1:p.Thr1443Ile
ENST00000371375.2:c.4328C>T	ENSP00000360426.1:p.Thr1443Ile
ENST00000371380.7:c.5252C>T	ENSP00000360431.2:p.Thr1751Ile
ENST00000371385.7:c.4328C>T	ENSP00000360438.3:p.Thr1443Ile
ENST00000371385.8:c.4226C>T	ENSP00000360438.4:p.Thr1409Ile
ENST00000674738.1:c.3807C>T
ENST00000674827.1:c.3368C>T	ENSP00000502523.1:p.Thr1123Ile
ENST00000675218.1:c.4328C>T	ENSP00000501910.1:p.Thr1443Ile
ENST00000675487.1:c.*1185C>T	ENSP00000502340.1:n.*1185C>T
ENST00000675718.1:c.4521C>T
ENST00000676102.1:c.4097C>T	ENSP00000502811.1:p.Thr1366Ile
ENST00000685253.1:c.*1795C>T	ENSP00000509405.1:n.*1795C>T
ENST00000685889.1:n.1987C>T
ENST00000686807.1:n.671C>T
ENST00000686954.1:c.*536C>T	ENSP00000508416.1:n.*536C>T
ENST00000688810.1:c.4280C>T	ENSP00000509140.1:p.Thr1427Ile
ENST00000689233.1:n.9460C>T
ENST00000690340.1:n.2925C>T
ENST00000692286.1:c.5120C>T	ENSP00000509490.1:p.Thr1707Ile
ENST00000692396.1:c.5204C>T	ENSP00000508605.1:p.Thr1735Ile
XM_006717885.2:c.5294C>T	XP_006717948.1:p.Thr1765Ile
XM_006717885.4:c.5294C>T	XP_006717948.1:p.Thr1765Ile
XM_006717886.2:c.5294C>T	XP_006717949.1:p.Thr1765Ile
XM_006717888.2:c.5291C>T	XP_006717951.1:p.Thr1764Ile
XM_006717888.4:c.5291C>T	XP_006717951.1:p.Thr1764Ile
XM_006717889.2:c.5246C>T	XP_006717952.1:p.Thr1749Ile
XM_006717889.4:c.5246C>T	XP_006717952.1:p.Thr1749Ile
XM_006717890.1:c.4370C>T	XP_006717953.1:p.Thr1457Ile
XM_006717890.3:c.4370C>T	XP_006717953.1:p.Thr1457Ile
XM_011539849.1:c.5294C>T	XP_011538151.1:p.Thr1765Ile
XM_011539849.3:c.5294C>T	XP_011538151.1:p.Thr1765Ile
XM_011539850.1:c.4139C>T	XP_011538152.1:p.Thr1380Ile
XM_011539850.3:c.4139C>T	XP_011538152.1:p.Thr1380Ile
XM_017016310.2:c.5294C>T	XP_016871799.1:p.Thr1765Ile
XM_017016311.2:c.5294C>T	XP_016871800.1:p.Thr1765Ile
XM_017016312.2:c.4280C>T	XP_016871801.1:p.Thr1427Ile