Canonical Allele Identifier: CA5613058

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94265652C>T , CM000672.2:g.94265652C>T	GRCh38
NC_000010.10:g.96025409C>T , CM000672.1:g.96025409C>T	GRCh37
NC_000010.9:g.96015399C>T	NCBI36
NG_015799.1:g.276664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.3135C>T	ENSP00000360426.1:p.Phe1045=
ENST00000685253.1:c.*602C>T	ENSP00000509405.1:n.*602C>T
ENST00000685889.1:n.794C>T
ENST00000686954.1:c.4059C>T	ENSP00000508416.1:p.Phe1353=
ENST00000687948.1:n.1134C>T
ENST00000688810.1:c.3087C>T	ENSP00000509140.1:p.Phe1029=
ENST00000689233.1:n.4389C>T
ENST00000692286.1:c.4059C>T	ENSP00000509490.1:p.Phe1353=
ENST00000692396.1:c.4011C>T	ENSP00000508605.1:p.Phe1337=
ENST00000371380.8:c.4059C>T MANE Select	ENSP00000360431.2:p.Phe1353=
ENST00000371385.8:c.3033C>T	ENSP00000360438.4:p.Phe1011=
ENST00000674738.1:c.2464C>T
ENST00000674827.1:c.2136C>T	ENSP00000502523.1:p.Phe712=
ENST00000675218.1:c.3135C>T	ENSP00000501910.1:p.Phe1045=
ENST00000675487.1:c.3820C>T	ENSP00000502340.1:p.Arg1274Ter
ENST00000675718.1:c.3286C>T
ENST00000676102.1:c.2904C>T	ENSP00000502811.1:p.Phe968=
ENST00000260766.7:c.4059C>T	ENSP00000260766.3:p.Phe1353=
ENST00000371375.1:c.3135C>T	ENSP00000360426.1:p.Phe1045=
ENST00000371380.7:c.4059C>T	ENSP00000360431.2:p.Phe1353=
ENST00000371385.7:c.3135C>T	ENSP00000360438.3:p.Phe1045=
NM_001165979.2:c.3135C>T	NP_001159451.1:p.Phe1045=
NM_001288989.1:c.4011C>T	NP_001275918.1:p.Phe1337=
NM_016341.3:c.4059C>T	NP_057425.3:p.Phe1353=
XM_006717885.2:c.4059C>T	XP_006717948.1:p.Phe1353=
XM_006717886.2:c.4059C>T	XP_006717949.1:p.Phe1353=
XM_006717888.2:c.4059C>T	XP_006717951.1:p.Phe1353=
XM_006717889.2:c.4011C>T	XP_006717952.1:p.Phe1337=
XM_006717890.1:c.3135C>T	XP_006717953.1:p.Phe1045=
XM_011539849.1:c.4059C>T	XP_011538151.1:p.Phe1353=
XM_011539850.1:c.2904C>T	XP_011538152.1:p.Phe968=
XM_011539851.1:c.4059C>T	XP_011538153.1:p.Phe1353=
XM_011539852.1:c.4059C>T	XP_011538154.1:p.Phe1353=
XM_006717885.4:c.4059C>T	XP_006717948.1:p.Phe1353=
XM_006717888.4:c.4059C>T	XP_006717951.1:p.Phe1353=
XM_006717889.4:c.4011C>T	XP_006717952.1:p.Phe1337=
XM_006717890.3:c.3135C>T	XP_006717953.1:p.Phe1045=
XM_011539849.3:c.4059C>T	XP_011538151.1:p.Phe1353=
XM_011539850.3:c.2904C>T	XP_011538152.1:p.Phe968=
XM_011539851.3:c.4059C>T	XP_011538153.1:p.Phe1353=
XM_011539852.3:c.4059C>T	XP_011538154.1:p.Phe1353=
XM_017016310.2:c.4059C>T	XP_016871799.1:p.Phe1353=
XM_017016311.2:c.4059C>T	XP_016871800.1:p.Phe1353=
XM_017016312.2:c.3087C>T	XP_016871801.1:p.Phe1029=
NM_001288989.2:c.4011C>T	NP_001275918.1:p.Phe1337=
NM_016341.4:c.4059C>T MANE Select	NP_057425.3:p.Phe1353=