Canonical Allele Identifier: CA211599657

Gene: PLCE1

Linked Data

• dbSNP Id: rs550258605
• gnomAD v2: 10-96058245-G-A
• gnomAD v3: 10-94298488-G-A
• gnomAD v4: 10-94298488-G-A
• COSMIC: COSM4551376 ; COSM4551377 ; COSM4551378
• MyVariant Identifiers: chr10:g.96058245G>A (hg19) ; chr10:g.94298488G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298488G>A , CM000672.2:g.94298488G>A	GRCh38
NC_000010.10:g.96058245G>A , CM000672.1:g.96058245G>A	GRCh37
NC_000010.9:g.96048235G>A	NCBI36
NG_015799.1:g.309500G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4353G>A	ENSP00000360426.1:p.Ser1451=
ENST00000685253.1:c.*1820G>A	ENSP00000509405.1:n.*1820G>A
ENST00000685889.1:n.2012G>A
ENST00000686807.1:n.696G>A
ENST00000686954.1:c.*561G>A	ENSP00000508416.1:n.*561G>A
ENST00000688810.1:c.4305G>A	ENSP00000509140.1:p.Ser1435=
ENST00000689233.1:n.9485G>A
ENST00000690340.1:n.2950G>A
ENST00000692286.1:c.5145G>A	ENSP00000509490.1:p.Ser1715=
ENST00000692396.1:c.5229G>A	ENSP00000508605.1:p.Ser1743=
ENST00000371380.8:c.5277G>A MANE Select	ENSP00000360431.2:p.Ser1759=
ENST00000371385.8:c.4251G>A	ENSP00000360438.4:p.Ser1417=
ENST00000674738.1:c.3832G>A
ENST00000674827.1:c.3393G>A	ENSP00000502523.1:p.Ser1131=
ENST00000675218.1:c.4353G>A	ENSP00000501910.1:p.Ser1451=
ENST00000675487.1:c.*1210G>A	ENSP00000502340.1:n.*1210G>A
ENST00000675718.1:c.4546G>A
ENST00000260766.7:c.5277G>A	ENSP00000260766.3:p.Ser1759=
ENST00000371375.1:c.4353G>A	ENSP00000360426.1:p.Ser1451=
ENST00000371380.7:c.5277G>A	ENSP00000360431.2:p.Ser1759=
ENST00000371385.7:c.4353G>A	ENSP00000360438.3:p.Ser1451=
NM_001165979.2:c.4353G>A	NP_001159451.1:p.Ser1451=
NM_001288989.1:c.5229G>A	NP_001275918.1:p.Ser1743=
NM_016341.3:c.5277G>A	NP_057425.3:p.Ser1759=
XM_006717885.2:c.5319G>A	XP_006717948.1:p.Ser1773=
XM_006717886.2:c.5319G>A	XP_006717949.1:p.Ser1773=
XM_006717888.2:c.5316G>A	XP_006717951.1:p.Ser1772=
XM_006717889.2:c.5271G>A	XP_006717952.1:p.Ser1757=
XM_006717890.1:c.4395G>A	XP_006717953.1:p.Ser1465=
XM_011539849.1:c.5319G>A	XP_011538151.1:p.Ser1773=
XM_011539850.1:c.4164G>A	XP_011538152.1:p.Ser1388=
XM_006717885.4:c.5319G>A	XP_006717948.1:p.Ser1773=
XM_006717888.4:c.5316G>A	XP_006717951.1:p.Ser1772=
XM_006717889.4:c.5271G>A	XP_006717952.1:p.Ser1757=
XM_006717890.3:c.4395G>A	XP_006717953.1:p.Ser1465=
XM_011539849.3:c.5319G>A	XP_011538151.1:p.Ser1773=
XM_011539850.3:c.4164G>A	XP_011538152.1:p.Ser1388=
XM_017016310.2:c.5319G>A	XP_016871799.1:p.Ser1773=
XM_017016311.2:c.5319G>A	XP_016871800.1:p.Ser1773=
XM_017016312.2:c.4305G>A	XP_016871801.1:p.Ser1435=
NM_001288989.2:c.5229G>A	NP_001275918.1:p.Ser1743=
NM_016341.4:c.5277G>A MANE Select	NP_057425.3:p.Ser1759=