Canonical Allele Identifier: CA377642203

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94298626-G-T
• MyVariant Identifiers: chr10:g.96058383G>T (hg19) ; chr10:g.94298626G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298626G>T , CM000672.2:g.94298626G>T	GRCh38
NC_000010.10:g.96058383G>T , CM000672.1:g.96058383G>T	GRCh37
NC_000010.9:g.96048373G>T	NCBI36
NG_015799.1:g.309638G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4491G>T	ENSP00000360426.1:p.Trp1497Cys
ENST00000685253.1:c.*1958G>T	ENSP00000509405.1:n.*1958G>T
ENST00000685889.1:n.2150G>T
ENST00000686807.1:n.834G>T
ENST00000686954.1:c.*699G>T	ENSP00000508416.1:n.*699G>T
ENST00000688810.1:c.4443G>T	ENSP00000509140.1:p.Trp1481Cys
ENST00000689233.1:n.9623G>T
ENST00000690340.1:n.3088G>T
ENST00000692286.1:c.5283G>T	ENSP00000509490.1:p.Trp1761Cys
ENST00000692396.1:c.5367G>T	ENSP00000508605.1:p.Trp1789Cys
ENST00000371380.8:c.5415G>T MANE Select	ENSP00000360431.2:p.Trp1805Cys
ENST00000371385.8:c.4389G>T	ENSP00000360438.4:p.Trp1463Cys
ENST00000674738.1:c.3970G>T
ENST00000674827.1:c.3531G>T	ENSP00000502523.1:p.Trp1177Cys
ENST00000675218.1:c.4491G>T	ENSP00000501910.1:p.Trp1497Cys
ENST00000675487.1:c.*1348G>T	ENSP00000502340.1:n.*1348G>T
ENST00000675718.1:c.4684G>T
ENST00000260766.7:c.5415G>T	ENSP00000260766.3:p.Trp1805Cys
ENST00000371375.1:c.4491G>T	ENSP00000360426.1:p.Trp1497Cys
ENST00000371380.7:c.5415G>T	ENSP00000360431.2:p.Trp1805Cys
ENST00000371385.7:c.4491G>T	ENSP00000360438.3:p.Trp1497Cys
NM_001165979.2:c.4491G>T	NP_001159451.1:p.Trp1497Cys
NM_001288989.1:c.5367G>T	NP_001275918.1:p.Trp1789Cys
NM_016341.3:c.5415G>T	NP_057425.3:p.Trp1805Cys
XM_006717885.2:c.5457G>T	XP_006717948.1:p.Trp1819Cys
XM_006717886.2:c.5457G>T	XP_006717949.1:p.Trp1819Cys
XM_006717888.2:c.5454G>T	XP_006717951.1:p.Trp1818Cys
XM_006717889.2:c.5409G>T	XP_006717952.1:p.Trp1803Cys
XM_006717890.1:c.4533G>T	XP_006717953.1:p.Trp1511Cys
XM_011539849.1:c.5457G>T	XP_011538151.1:p.Trp1819Cys
XM_011539850.1:c.4302G>T	XP_011538152.1:p.Trp1434Cys
XM_006717885.4:c.5457G>T	XP_006717948.1:p.Trp1819Cys
XM_006717888.4:c.5454G>T	XP_006717951.1:p.Trp1818Cys
XM_006717889.4:c.5409G>T	XP_006717952.1:p.Trp1803Cys
XM_006717890.3:c.4533G>T	XP_006717953.1:p.Trp1511Cys
XM_011539849.3:c.5457G>T	XP_011538151.1:p.Trp1819Cys
XM_011539850.3:c.4302G>T	XP_011538152.1:p.Trp1434Cys
XM_017016310.2:c.5457G>T	XP_016871799.1:p.Trp1819Cys
XM_017016311.2:c.5457G>T	XP_016871800.1:p.Trp1819Cys
XM_017016312.2:c.4443G>T	XP_016871801.1:p.Trp1481Cys
NM_001288989.2:c.5367G>T	NP_001275918.1:p.Trp1789Cys
NM_016341.4:c.5415G>T MANE Select	NP_057425.3:p.Trp1805Cys