Canonical Allele Identifier: CA5613332

Gene: PLCE1

Linked Data

• dbSNP Id: rs367749019
• ExAC: 10:96058269 T / A
• gnomAD v2: 10-96058269-T-A
• gnomAD v3: 10-94298512-T-A
• gnomAD v4: 10-94298512-T-A
• MyVariant Identifiers: chr10:g.96058269T>A (hg19) ; chr10:g.94298512T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298512T>A , CM000672.2:g.94298512T>A	GRCh38
NC_000010.10:g.96058269T>A , CM000672.1:g.96058269T>A	GRCh37
NC_000010.9:g.96048259T>A	NCBI36
NG_015799.1:g.309524T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4377T>A	ENSP00000360426.1:p.Arg1459=
ENST00000685253.1:c.*1844T>A	ENSP00000509405.1:n.*1844T>A
ENST00000685889.1:n.2036T>A
ENST00000686807.1:n.720T>A
ENST00000686954.1:c.*585T>A	ENSP00000508416.1:n.*585T>A
ENST00000688810.1:c.4329T>A	ENSP00000509140.1:p.Arg1443=
ENST00000689233.1:n.9509T>A
ENST00000690340.1:n.2974T>A
ENST00000692286.1:c.5169T>A	ENSP00000509490.1:p.Arg1723=
ENST00000692396.1:c.5253T>A	ENSP00000508605.1:p.Arg1751=
ENST00000371380.8:c.5301T>A MANE Select	ENSP00000360431.2:p.Arg1767=
ENST00000371385.8:c.4275T>A	ENSP00000360438.4:p.Arg1425=
ENST00000674738.1:c.3856T>A
ENST00000674827.1:c.3417T>A	ENSP00000502523.1:p.Arg1139=
ENST00000675218.1:c.4377T>A	ENSP00000501910.1:p.Arg1459=
ENST00000675487.1:c.*1234T>A	ENSP00000502340.1:n.*1234T>A
ENST00000675718.1:c.4570T>A
ENST00000260766.7:c.5301T>A	ENSP00000260766.3:p.Arg1767=
ENST00000371375.1:c.4377T>A	ENSP00000360426.1:p.Arg1459=
ENST00000371380.7:c.5301T>A	ENSP00000360431.2:p.Arg1767=
ENST00000371385.7:c.4377T>A	ENSP00000360438.3:p.Arg1459=
NM_001165979.2:c.4377T>A	NP_001159451.1:p.Arg1459=
NM_001288989.1:c.5253T>A	NP_001275918.1:p.Arg1751=
NM_016341.3:c.5301T>A	NP_057425.3:p.Arg1767=
XM_006717885.2:c.5343T>A	XP_006717948.1:p.Arg1781=
XM_006717886.2:c.5343T>A	XP_006717949.1:p.Arg1781=
XM_006717888.2:c.5340T>A	XP_006717951.1:p.Arg1780=
XM_006717889.2:c.5295T>A	XP_006717952.1:p.Arg1765=
XM_006717890.1:c.4419T>A	XP_006717953.1:p.Arg1473=
XM_011539849.1:c.5343T>A	XP_011538151.1:p.Arg1781=
XM_011539850.1:c.4188T>A	XP_011538152.1:p.Arg1396=
XM_006717885.4:c.5343T>A	XP_006717948.1:p.Arg1781=
XM_006717888.4:c.5340T>A	XP_006717951.1:p.Arg1780=
XM_006717889.4:c.5295T>A	XP_006717952.1:p.Arg1765=
XM_006717890.3:c.4419T>A	XP_006717953.1:p.Arg1473=
XM_011539849.3:c.5343T>A	XP_011538151.1:p.Arg1781=
XM_011539850.3:c.4188T>A	XP_011538152.1:p.Arg1396=
XM_017016310.2:c.5343T>A	XP_016871799.1:p.Arg1781=
XM_017016311.2:c.5343T>A	XP_016871800.1:p.Arg1781=
XM_017016312.2:c.4329T>A	XP_016871801.1:p.Arg1443=
NM_001288989.2:c.5253T>A	NP_001275918.1:p.Arg1751=
NM_016341.4:c.5301T>A MANE Select	NP_057425.3:p.Arg1767=