Canonical Allele Identifier: CA15666817

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94313568C>T , CM000672.2:g.94313568C>T	GRCh38
NC_000010.10:g.96073325C>T , CM000672.1:g.96073325C>T	GRCh37
NC_000010.9:g.96063315C>T	NCBI36
NG_015799.1:g.324580C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016341.4:c.6132+186C>T MANE Select	NP_057425.3:n.6132+186C>T
ENST00000371380.8:c.6132+186C>T MANE Select	ENSP00000360431.2:n.6132+186C>T
NM_001165979.2:c.5208+186C>T	NP_001159451.1:n.5208+186C>T
NM_001288989.1:c.6084+186C>T	NP_001275918.1:n.6084+186C>T
NM_001288989.2:c.6084+186C>T	NP_001275918.1:n.6084+186C>T
NM_016341.3:c.6132+186C>T	NP_057425.3:n.6132+186C>T
ENST00000260766.7:c.6132+186C>T	ENSP00000260766.3:n.6132+186C>T
ENST00000371375.1:c.5208+186C>T	ENSP00000360426.1:n.5208+186C>T
ENST00000371375.2:c.5208+186C>T	ENSP00000360426.1:n.5208+186C>T
ENST00000371380.7:c.6132+186C>T	ENSP00000360431.2:n.6132+186C>T
ENST00000371385.7:c.5208+186C>T	ENSP00000360438.3:n.5208+186C>T
ENST00000371385.8:c.5106+186C>T	ENSP00000360438.4:n.5106+186C>T
ENST00000674738.1:c.4687+186C>T
ENST00000674827.1:c.4248+186C>T	ENSP00000502523.1:n.4248+186C>T
ENST00000675218.1:c.5208+186C>T	ENSP00000501910.1:n.5208+186C>T
ENST00000675487.1:c.*2065+186C>T	ENSP00000502340.1:n.*2065+186C>T
ENST00000675718.1:c.5401+186C>T
ENST00000685132.1:n.3741+186C>T
ENST00000685253.1:c.*2675+186C>T	ENSP00000509405.1:n.*2675+186C>T
ENST00000685889.1:n.2867+186C>T
ENST00000686807.1:n.1551+186C>T
ENST00000686954.1:c.*1416+186C>T	ENSP00000508416.1:n.*1416+186C>T
ENST00000688810.1:c.5160+186C>T	ENSP00000509140.1:n.5160+186C>T
ENST00000689233.1:n.10340+186C>T
ENST00000690340.1:n.3805+186C>T
ENST00000692286.1:c.6000+186C>T	ENSP00000509490.1:n.6000+186C>T
ENST00000692396.1:c.6084+186C>T	ENSP00000508605.1:n.6084+186C>T
XM_006717885.2:c.6174+186C>T	XP_006717948.1:n.6174+186C>T
XM_006717885.4:c.6174+186C>T	XP_006717948.1:n.6174+186C>T
XM_006717886.2:c.6174+186C>T	XP_006717949.1:n.6174+186C>T
XM_006717888.2:c.6171+186C>T	XP_006717951.1:n.6171+186C>T
XM_006717888.4:c.6171+186C>T	XP_006717951.1:n.6171+186C>T
XM_006717889.2:c.6126+186C>T	XP_006717952.1:n.6126+186C>T
XM_006717889.4:c.6126+186C>T	XP_006717952.1:n.6126+186C>T
XM_006717890.1:c.5250+186C>T	XP_006717953.1:n.5250+186C>T
XM_006717890.3:c.5250+186C>T	XP_006717953.1:n.5250+186C>T
XM_011539849.1:c.6174+186C>T	XP_011538151.1:n.6174+186C>T
XM_011539849.3:c.6174+186C>T	XP_011538151.1:n.6174+186C>T
XM_011539850.1:c.5019+186C>T	XP_011538152.1:n.5019+186C>T
XM_011539850.3:c.5019+186C>T	XP_011538152.1:n.5019+186C>T
XM_017016310.2:c.6174+186C>T	XP_016871799.1:n.6174+186C>T
XM_017016311.2:c.6174+186C>T	XP_016871800.1:n.6174+186C>T
XM_017016312.2:c.5160+186C>T	XP_016871801.1:n.5160+186C>T