Canonical Allele Identifier: CA211618596

Gene: PLCE1 NOC3L

Linked Data

• dbSNP Id: rs1049410981
• gnomAD v4: 10-94321942-G-A
• COSMIC: COSM5413298 ; COSM5413299 ; COSM5413300 ; COSM5413301
• MyVariant Identifiers: chr10:g.96081699G>A (hg19) ; chr10:g.94321942G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94321942G>A , CM000672.2:g.94321942G>A	GRCh38
NC_000010.10:g.96081699G>A , CM000672.1:g.96081699G>A	GRCh37
NC_000010.9:g.96071689G>A	NCBI36
NG_015799.1:g.332954G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.5460G>A (PLCE1)	ENSP00000360426.1:p.Val1820=
ENST00000685132.1:n.3783G>A (PLCE1)
ENST00000685253.1:c.*2927G>A (PLCE1)	ENSP00000509405.1:n.*2927G>A
ENST00000685889.1:n.3119G>A (PLCE1)
ENST00000686807.1:n.1803G>A (PLCE1)
ENST00000686954.1:c.*1668G>A (PLCE1)	ENSP00000508416.1:n.*1668G>A
ENST00000688810.1:c.5412G>A (PLCE1)	ENSP00000509140.1:p.Val1804=
ENST00000689233.1:n.10592G>A (PLCE1)
ENST00000690340.1:n.4057G>A (PLCE1)
ENST00000692286.1:c.6252G>A (PLCE1)	ENSP00000509490.1:p.Val2084=
ENST00000692396.1:c.6336G>A (PLCE1)	ENSP00000508605.1:p.Val2112=
ENST00000371380.8:c.6384G>A (PLCE1) MANE Select	ENSP00000360431.2:p.Val2128=
ENST00000371385.8:c.5358G>A (PLCE1)	ENSP00000360438.4:p.Val1786=
ENST00000674738.1:c.4939G>A (PLCE1)
ENST00000674827.1:c.4500G>A (PLCE1)	ENSP00000502523.1:p.Val1500=
ENST00000675218.1:c.5460G>A (PLCE1)	ENSP00000501910.1:p.Val1820=
ENST00000675487.1:c.*2317G>A (PLCE1)	ENSP00000502340.1:n.*2317G>A
ENST00000675718.1:c.5653G>A (PLCE1)
ENST00000260766.7:c.6384G>A (PLCE1)	ENSP00000260766.3:p.Val2128=
ENST00000371375.1:c.5460G>A (PLCE1)	ENSP00000360426.1:p.Val1820=
ENST00000371380.7:c.6384G>A (PLCE1)	ENSP00000360431.2:p.Val2128=
ENST00000371385.7:c.5460G>A (PLCE1)	ENSP00000360438.3:p.Val1820=
NM_001165979.2:c.5460G>A (PLCE1)	NP_001159451.1:p.Val1820=
NM_001288989.1:c.6336G>A (PLCE1)	NP_001275918.1:p.Val2112=
NM_016341.3:c.6384G>A (PLCE1)	NP_057425.3:p.Val2128=
XM_006717885.2:c.6426G>A (PLCE1)	XP_006717948.1:p.Val2142=
XM_006717886.2:c.6426G>A (PLCE1)	XP_006717949.1:p.Val2142=
XM_006717888.2:c.6423G>A (PLCE1)	XP_006717951.1:p.Val2141=
XM_006717889.2:c.6378G>A (PLCE1)	XP_006717952.1:p.Val2126=
XM_006717890.1:c.5502G>A (PLCE1)	XP_006717953.1:p.Val1834=
XM_011539849.1:c.6426G>A (PLCE1)	XP_011538151.1:p.Val2142=
XM_011539850.1:c.5271G>A (PLCE1)	XP_011538152.1:p.Val1757=
XR_945799.1:n.3311-6478C>T (NOC3L)
XM_006717885.4:c.6426G>A (PLCE1)	XP_006717948.1:p.Val2142=
XM_006717888.4:c.6423G>A (PLCE1)	XP_006717951.1:p.Val2141=
XM_006717889.4:c.6378G>A (PLCE1)	XP_006717952.1:p.Val2126=
XM_006717890.3:c.5502G>A (PLCE1)	XP_006717953.1:p.Val1834=
XM_011539849.3:c.6426G>A (PLCE1)	XP_011538151.1:p.Val2142=
XM_011539850.3:c.5271G>A (PLCE1)	XP_011538152.1:p.Val1757=
XM_017016310.2:c.6426G>A (PLCE1)	XP_016871799.1:p.Val2142=
XM_017016311.2:c.6426G>A (PLCE1)	XP_016871800.1:p.Val2142=
XM_017016312.2:c.5412G>A (PLCE1)	XP_016871801.1:p.Val1804=
XR_002957007.1:n.3312-6478C>T (NOC3L)
NM_001288989.2:c.6336G>A (PLCE1)	NP_001275918.1:p.Val2112=
NM_016341.4:c.6384G>A (PLCE1) MANE Select	NP_057425.3:p.Val2128=