Canonical Allele Identifier: CA377642218

Gene: PLCE1

Linked Data

• dbSNP Id: rs1310169027
• gnomAD v2: 10-96058387-C-T
• gnomAD v4: 10-94298630-C-T
• MyVariant Identifiers: chr10:g.96058387C>T (hg19) ; chr10:g.94298630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298630C>T , CM000672.2:g.94298630C>T	GRCh38
NC_000010.10:g.96058387C>T , CM000672.1:g.96058387C>T	GRCh37
NC_000010.9:g.96048377C>T	NCBI36
NG_015799.1:g.309642C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4495C>T	ENSP00000360426.1:p.His1499Tyr
ENST00000685253.1:c.*1962C>T	ENSP00000509405.1:n.*1962C>T
ENST00000685889.1:n.2154C>T
ENST00000686807.1:n.838C>T
ENST00000686954.1:c.*703C>T	ENSP00000508416.1:n.*703C>T
ENST00000688810.1:c.4447C>T	ENSP00000509140.1:p.His1483Tyr
ENST00000689233.1:n.9627C>T
ENST00000690340.1:n.3092C>T
ENST00000692286.1:c.5287C>T	ENSP00000509490.1:p.His1763Tyr
ENST00000692396.1:c.5371C>T	ENSP00000508605.1:p.His1791Tyr
ENST00000371380.8:c.5419C>T MANE Select	ENSP00000360431.2:p.His1807Tyr
ENST00000371385.8:c.4393C>T	ENSP00000360438.4:p.His1465Tyr
ENST00000674738.1:c.3974C>T
ENST00000674827.1:c.3535C>T	ENSP00000502523.1:p.His1179Tyr
ENST00000675218.1:c.4495C>T	ENSP00000501910.1:p.His1499Tyr
ENST00000675487.1:c.*1352C>T	ENSP00000502340.1:n.*1352C>T
ENST00000675718.1:c.4688C>T
ENST00000260766.7:c.5419C>T	ENSP00000260766.3:p.His1807Tyr
ENST00000371375.1:c.4495C>T	ENSP00000360426.1:p.His1499Tyr
ENST00000371380.7:c.5419C>T	ENSP00000360431.2:p.His1807Tyr
ENST00000371385.7:c.4495C>T	ENSP00000360438.3:p.His1499Tyr
NM_001165979.2:c.4495C>T	NP_001159451.1:p.His1499Tyr
NM_001288989.1:c.5371C>T	NP_001275918.1:p.His1791Tyr
NM_016341.3:c.5419C>T	NP_057425.3:p.His1807Tyr
XM_006717885.2:c.5461C>T	XP_006717948.1:p.His1821Tyr
XM_006717886.2:c.5461C>T	XP_006717949.1:p.His1821Tyr
XM_006717888.2:c.5458C>T	XP_006717951.1:p.His1820Tyr
XM_006717889.2:c.5413C>T	XP_006717952.1:p.His1805Tyr
XM_006717890.1:c.4537C>T	XP_006717953.1:p.His1513Tyr
XM_011539849.1:c.5461C>T	XP_011538151.1:p.His1821Tyr
XM_011539850.1:c.4306C>T	XP_011538152.1:p.His1436Tyr
XM_006717885.4:c.5461C>T	XP_006717948.1:p.His1821Tyr
XM_006717888.4:c.5458C>T	XP_006717951.1:p.His1820Tyr
XM_006717889.4:c.5413C>T	XP_006717952.1:p.His1805Tyr
XM_006717890.3:c.4537C>T	XP_006717953.1:p.His1513Tyr
XM_011539849.3:c.5461C>T	XP_011538151.1:p.His1821Tyr
XM_011539850.3:c.4306C>T	XP_011538152.1:p.His1436Tyr
XM_017016310.2:c.5461C>T	XP_016871799.1:p.His1821Tyr
XM_017016311.2:c.5461C>T	XP_016871800.1:p.His1821Tyr
XM_017016312.2:c.4447C>T	XP_016871801.1:p.His1483Tyr
NM_001288989.2:c.5371C>T	NP_001275918.1:p.His1791Tyr
NM_016341.4:c.5419C>T MANE Select	NP_057425.3:p.His1807Tyr