Canonical Allele Identifier: CA645372502

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.[94313343T>C;94324971G>A] , CM000672.2:g.[94313343T>C;94324971G>A]	GRCh38
NC_000010.10:g.[96073100T>C;96084728G>A] , CM000672.1:g.[96073100T>C;96084728G>A]	GRCh37
NC_000010.9:g.[96063090T>C;96074718G>A]	NCBI36
NG_015799.1:g.[324355T>C;335983G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.[5169T>C;5876G>A]	ENSP00000360426.1:p.[Thr1723=;Arg1959Gln]
ENST00000685253.1:c.[*2636T>C;*3343G>A]	ENSP00000509405.1:n.[*2636T>C;*3343G>A]
ENST00000685889.1:n.[2828T>C;3535G>A]
ENST00000686807.1:n.[1512T>C;2219G>A]
ENST00000686954.1:c.[*1377T>C;*2084G>A]	ENSP00000508416.1:n.[*1377T>C;*2084G>A]
ENST00000688810.1:c.[5121T>C;5828G>A]	ENSP00000509140.1:p.[Thr1707=;Arg1943Gln]
ENST00000689233.1:n.[10301T>C;11008G>A]
ENST00000690340.1:n.[3766T>C;4444G>A]
ENST00000692286.1:c.[5961T>C;6668G>A]	ENSP00000509490.1:p.[Thr1987=;Arg2223Gln]
ENST00000692396.1:c.[6045T>C;6752G>A]	ENSP00000508605.1:p.[Thr2015=;Arg2251Gln]
ENST00000371380.8:c.[6093T>C;6800G>A] MANE Select	ENSP00000360431.2:p.[Thr2031=;Arg2267Gln]
ENST00000371385.8:c.[5067T>C;5774G>A]	ENSP00000360438.4:p.[Thr1689=;Arg1925Gln]
ENST00000675218.1:c.[5169T>C;5876G>A]	ENSP00000501910.1:p.[Thr1723=;Arg1959Gln]
ENST00000675487.1:c.[*2026T>C;*2733G>A]	ENSP00000502340.1:n.[*2026T>C;*2733G>A]
ENST00000260766.7:c.[6093T>C;6800G>A]	ENSP00000260766.3:p.[Thr2031=;Arg2267Gln]
ENST00000371375.1:c.[5169T>C;5876G>A]	ENSP00000360426.1:p.[Thr1723=;Arg1959Gln]
ENST00000371380.7:c.[6093T>C;6800G>A]	ENSP00000360431.2:p.[Thr2031=;Arg2267Gln]
ENST00000371385.7:c.[5169T>C;5876G>A]	ENSP00000360438.3:p.[Thr1723=;Arg1959Gln]
NM_001165979.2:c.[5169T>C;5876G>A]	NP_001159451.1:p.[Thr1723=;Arg1959Gln]
NM_001288989.1:c.[6045T>C;6752G>A]	NP_001275918.1:p.[Thr2015=;Arg2251Gln]
NM_016341.3:c.[6093T>C;6800G>A]	NP_057425.3:p.[Thr2031=;Arg2267Gln]
XM_006717885.2:c.[6135T>C;6842G>A]	XP_006717948.1:p.[Thr2045=;Arg2281Gln]
XM_006717886.2:c.[6135T>C;6842G>A]	XP_006717949.1:p.[Thr2045=;Arg2281Gln]
XM_006717888.2:c.[6132T>C;6839G>A]	XP_006717951.1:p.[Thr2044=;Arg2280Gln]
XM_006717889.2:c.[6087T>C;6794G>A]	XP_006717952.1:p.[Thr2029=;Arg2265Gln]
XM_006717890.1:c.[5211T>C;5918G>A]	XP_006717953.1:p.[Thr1737=;Arg1973Gln]
XM_011539849.1:c.[6135T>C;6842G>A]	XP_011538151.1:p.[Thr2045=;Arg2281Gln]
XM_011539850.1:c.[4980T>C;5687G>A]	XP_011538152.1:p.[Thr1660=;Arg1896Gln]
XM_006717885.4:c.[6135T>C;6842G>A]	XP_006717948.1:p.[Thr2045=;Arg2281Gln]
XM_006717888.4:c.[6132T>C;6839G>A]	XP_006717951.1:p.[Thr2044=;Arg2280Gln]
XM_006717889.4:c.[6087T>C;6794G>A]	XP_006717952.1:p.[Thr2029=;Arg2265Gln]
XM_006717890.3:c.[5211T>C;5918G>A]	XP_006717953.1:p.[Thr1737=;Arg1973Gln]
XM_011539849.3:c.[6135T>C;6842G>A]	XP_011538151.1:p.[Thr2045=;Arg2281Gln]
XM_011539850.3:c.[4980T>C;5687G>A]	XP_011538152.1:p.[Thr1660=;Arg1896Gln]
XM_017016310.2:c.[6135T>C;6842G>A]	XP_016871799.1:p.[Thr2045=;Arg2281Gln]
XM_017016311.2:c.[6135T>C;6842G>A]	XP_016871800.1:p.[Thr2045=;Arg2281Gln]
XM_017016312.2:c.[5121T>C;5828G>A]	XP_016871801.1:p.[Thr1707=;Arg1943Gln]
NM_001288989.2:c.[6045T>C;6752G>A]	NP_001275918.1:p.[Thr2015=;Arg2251Gln]
NM_016341.4:c.[6093T>C;6800G>A] MANE Select	NP_057425.3:p.[Thr2031=;Arg2267Gln]