Canonical Allele Identifier: CA5612313

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94132127T>C , CM000672.2:g.94132127T>C	GRCh38
NC_000010.10:g.95891884T>C , CM000672.1:g.95891884T>C	GRCh37
NC_000010.9:g.95881874T>C	NCBI36
NG_015799.1:g.143139T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016341.4:c.1207-47T>C MANE Select	NP_057425.3:n.1207-47T>C
ENST00000371380.8:c.1207-47T>C MANE Select	ENSP00000360431.2:n.1207-47T>C
NM_001165979.2:c.283-47T>C	NP_001159451.1:n.283-47T>C
NM_001288989.1:c.1207-47T>C	NP_001275918.1:n.1207-47T>C
NM_001288989.2:c.1207-47T>C	NP_001275918.1:n.1207-47T>C
NM_016341.3:c.1207-47T>C	NP_057425.3:n.1207-47T>C
ENST00000260766.7:c.1207-47T>C	ENSP00000260766.3:n.1207-47T>C
ENST00000371375.1:c.283-47T>C	ENSP00000360426.1:n.283-47T>C
ENST00000371375.2:c.283-47T>C	ENSP00000360426.1:n.283-47T>C
ENST00000371380.7:c.1207-47T>C	ENSP00000360431.2:n.1207-47T>C
ENST00000371385.7:c.283-47T>C	ENSP00000360438.3:n.283-47T>C
ENST00000371385.8:c.283-47T>C	ENSP00000360438.4:n.283-47T>C
ENST00000675218.1:c.283-47T>C	ENSP00000501910.1:n.283-47T>C
ENST00000675487.1:c.1207-47T>C	ENSP00000502340.1:n.1207-47T>C
ENST00000675718.1:c.278-47T>C
ENST00000676102.1:c.52-47T>C	ENSP00000502811.1:n.52-47T>C
ENST00000685253.1:c.1207-47T>C	ENSP00000509405.1:n.1207-47T>C
ENST00000686954.1:c.1207-47T>C	ENSP00000508416.1:n.1207-47T>C
ENST00000688810.1:c.283-47T>C	ENSP00000509140.1:n.283-47T>C
ENST00000689233.1:n.1537-47T>C
ENST00000689699.1:n.1537-47T>C
ENST00000689982.1:n.286-47T>C
ENST00000692286.1:c.1207-47T>C	ENSP00000509490.1:n.1207-47T>C
ENST00000692396.1:c.1207-47T>C	ENSP00000508605.1:n.1207-47T>C
XM_006717885.2:c.1207-47T>C	XP_006717948.1:n.1207-47T>C
XM_006717885.4:c.1207-47T>C	XP_006717948.1:n.1207-47T>C
XM_006717886.2:c.1207-47T>C	XP_006717949.1:n.1207-47T>C
XM_006717888.2:c.1207-47T>C	XP_006717951.1:n.1207-47T>C
XM_006717888.4:c.1207-47T>C	XP_006717951.1:n.1207-47T>C
XM_006717889.2:c.1207-47T>C	XP_006717952.1:n.1207-47T>C
XM_006717889.4:c.1207-47T>C	XP_006717952.1:n.1207-47T>C
XM_006717890.1:c.283-47T>C	XP_006717953.1:n.283-47T>C
XM_006717890.3:c.283-47T>C	XP_006717953.1:n.283-47T>C
XM_011539849.1:c.1207-47T>C	XP_011538151.1:n.1207-47T>C
XM_011539849.3:c.1207-47T>C	XP_011538151.1:n.1207-47T>C
XM_011539850.1:c.52-47T>C	XP_011538152.1:n.52-47T>C
XM_011539850.3:c.52-47T>C	XP_011538152.1:n.52-47T>C
XM_011539851.1:c.1207-47T>C	XP_011538153.1:n.1207-47T>C
XM_011539851.3:c.1207-47T>C	XP_011538153.1:n.1207-47T>C
XM_011539852.1:c.1207-47T>C	XP_011538154.1:n.1207-47T>C
XM_011539852.3:c.1207-47T>C	XP_011538154.1:n.1207-47T>C
XM_017016310.2:c.1207-47T>C	XP_016871799.1:n.1207-47T>C
XM_017016311.2:c.1207-47T>C	XP_016871800.1:n.1207-47T>C
XM_017016312.2:c.283-47T>C	XP_016871801.1:n.283-47T>C