Canonical Allele Identifier: CA377640832

Gene: PLCE1

Linked Data

• dbSNP Id: rs1405270558
• gnomAD v2: 10-96053360-G-T
• gnomAD v3: 10-94293603-G-T
• gnomAD v4: 10-94293603-G-T
• COSMIC: COSM5694978 ; COSM5694979 ; COSM5694980 ; COSM5694981
• MyVariant Identifiers: chr10:g.96053360G>T (hg19) ; chr10:g.94293603G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293603G>T , CM000672.2:g.94293603G>T	GRCh38
NC_000010.10:g.96053360G>T , CM000672.1:g.96053360G>T	GRCh37
NC_000010.9:g.96043350G>T	NCBI36
NG_015799.1:g.304615G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4207G>T	ENSP00000360426.1:p.Gly1403Trp
ENST00000685253.1:c.*1674G>T	ENSP00000509405.1:n.*1674G>T
ENST00000685889.1:n.1866G>T
ENST00000686807.1:n.550G>T
ENST00000686954.1:c.*415G>T	ENSP00000508416.1:n.*415G>T
ENST00000688810.1:c.4159G>T	ENSP00000509140.1:p.Gly1387Trp
ENST00000689233.1:n.9339G>T
ENST00000690340.1:n.2804G>T
ENST00000692286.1:c.5036-4776G>T	ENSP00000509490.1:n.5036-4776G>T
ENST00000692396.1:c.5083G>T	ENSP00000508605.1:p.Gly1695Trp
ENST00000371380.8:c.5131G>T MANE Select	ENSP00000360431.2:p.Gly1711Trp
ENST00000371385.8:c.4105G>T	ENSP00000360438.4:p.Gly1369Trp
ENST00000674738.1:c.3686G>T
ENST00000674827.1:c.3247G>T	ENSP00000502523.1:p.Gly1083Trp
ENST00000675218.1:c.4207G>T	ENSP00000501910.1:p.Gly1403Trp
ENST00000675487.1:c.*1064G>T	ENSP00000502340.1:n.*1064G>T
ENST00000675718.1:c.4400G>T
ENST00000676102.1:c.3976G>T	ENSP00000502811.1:p.Gly1326Trp
ENST00000260766.7:c.5131G>T	ENSP00000260766.3:p.Gly1711Trp
ENST00000371375.1:c.4207G>T	ENSP00000360426.1:p.Gly1403Trp
ENST00000371380.7:c.5131G>T	ENSP00000360431.2:p.Gly1711Trp
ENST00000371385.7:c.4207G>T	ENSP00000360438.3:p.Gly1403Trp
NM_001165979.2:c.4207G>T	NP_001159451.1:p.Gly1403Trp
NM_001288989.1:c.5083G>T	NP_001275918.1:p.Gly1695Trp
NM_016341.3:c.5131G>T	NP_057425.3:p.Gly1711Trp
XM_006717885.2:c.5173G>T	XP_006717948.1:p.Gly1725Trp
XM_006717886.2:c.5173G>T	XP_006717949.1:p.Gly1725Trp
XM_006717888.2:c.5170G>T	XP_006717951.1:p.Gly1724Trp
XM_006717889.2:c.5125G>T	XP_006717952.1:p.Gly1709Trp
XM_006717890.1:c.4249G>T	XP_006717953.1:p.Gly1417Trp
XM_011539849.1:c.5173G>T	XP_011538151.1:p.Gly1725Trp
XM_011539850.1:c.4018G>T	XP_011538152.1:p.Gly1340Trp
XM_006717885.4:c.5173G>T	XP_006717948.1:p.Gly1725Trp
XM_006717888.4:c.5170G>T	XP_006717951.1:p.Gly1724Trp
XM_006717889.4:c.5125G>T	XP_006717952.1:p.Gly1709Trp
XM_006717890.3:c.4249G>T	XP_006717953.1:p.Gly1417Trp
XM_011539849.3:c.5173G>T	XP_011538151.1:p.Gly1725Trp
XM_011539850.3:c.4018G>T	XP_011538152.1:p.Gly1340Trp
XM_017016310.2:c.5173G>T	XP_016871799.1:p.Gly1725Trp
XM_017016311.2:c.5173G>T	XP_016871800.1:p.Gly1725Trp
XM_017016312.2:c.4159G>T	XP_016871801.1:p.Gly1387Trp
NM_001288989.2:c.5083G>T	NP_001275918.1:p.Gly1695Trp
NM_016341.4:c.5131G>T MANE Select	NP_057425.3:p.Gly1711Trp