Canonical Allele Identifier: CA377648184

Gene: PLCE1 NOC3L

Linked Data

• gnomAD v4: 10-94321940-G-C
• MyVariant Identifiers: chr10:g.96081697G>C (hg19) ; chr10:g.94321940G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94321940G>C , CM000672.2:g.94321940G>C	GRCh38
NC_000010.10:g.96081697G>C , CM000672.1:g.96081697G>C	GRCh37
NC_000010.9:g.96071687G>C	NCBI36
NG_015799.1:g.332952G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.5458G>C (PLCE1)	ENSP00000360426.1:p.Val1820Leu
ENST00000685132.1:n.3781G>C (PLCE1)
ENST00000685253.1:c.*2925G>C (PLCE1)	ENSP00000509405.1:n.*2925G>C
ENST00000685889.1:n.3117G>C (PLCE1)
ENST00000686807.1:n.1801G>C (PLCE1)
ENST00000686954.1:c.*1666G>C (PLCE1)	ENSP00000508416.1:n.*1666G>C
ENST00000688810.1:c.5410G>C (PLCE1)	ENSP00000509140.1:p.Val1804Leu
ENST00000689233.1:n.10590G>C (PLCE1)
ENST00000690340.1:n.4055G>C (PLCE1)
ENST00000692286.1:c.6250G>C (PLCE1)	ENSP00000509490.1:p.Val2084Leu
ENST00000692396.1:c.6334G>C (PLCE1)	ENSP00000508605.1:p.Val2112Leu
ENST00000371380.8:c.6382G>C (PLCE1) MANE Select	ENSP00000360431.2:p.Val2128Leu
ENST00000371385.8:c.5356G>C (PLCE1)	ENSP00000360438.4:p.Val1786Leu
ENST00000674738.1:c.4937G>C (PLCE1)
ENST00000674827.1:c.4498G>C (PLCE1)	ENSP00000502523.1:p.Val1500Leu
ENST00000675218.1:c.5458G>C (PLCE1)	ENSP00000501910.1:p.Val1820Leu
ENST00000675487.1:c.*2315G>C (PLCE1)	ENSP00000502340.1:n.*2315G>C
ENST00000675718.1:c.5651G>C (PLCE1)
ENST00000260766.7:c.6382G>C (PLCE1)	ENSP00000260766.3:p.Val2128Leu
ENST00000371375.1:c.5458G>C (PLCE1)	ENSP00000360426.1:p.Val1820Leu
ENST00000371380.7:c.6382G>C (PLCE1)	ENSP00000360431.2:p.Val2128Leu
ENST00000371385.7:c.5458G>C (PLCE1)	ENSP00000360438.3:p.Val1820Leu
NM_001165979.2:c.5458G>C (PLCE1)	NP_001159451.1:p.Val1820Leu
NM_001288989.1:c.6334G>C (PLCE1)	NP_001275918.1:p.Val2112Leu
NM_016341.3:c.6382G>C (PLCE1)	NP_057425.3:p.Val2128Leu
XM_006717885.2:c.6424G>C (PLCE1)	XP_006717948.1:p.Val2142Leu
XM_006717886.2:c.6424G>C (PLCE1)	XP_006717949.1:p.Val2142Leu
XM_006717888.2:c.6421G>C (PLCE1)	XP_006717951.1:p.Val2141Leu
XM_006717889.2:c.6376G>C (PLCE1)	XP_006717952.1:p.Val2126Leu
XM_006717890.1:c.5500G>C (PLCE1)	XP_006717953.1:p.Val1834Leu
XM_011539849.1:c.6424G>C (PLCE1)	XP_011538151.1:p.Val2142Leu
XM_011539850.1:c.5269G>C (PLCE1)	XP_011538152.1:p.Val1757Leu
XR_945799.1:n.3311-6476C>G (NOC3L)
XM_006717885.4:c.6424G>C (PLCE1)	XP_006717948.1:p.Val2142Leu
XM_006717888.4:c.6421G>C (PLCE1)	XP_006717951.1:p.Val2141Leu
XM_006717889.4:c.6376G>C (PLCE1)	XP_006717952.1:p.Val2126Leu
XM_006717890.3:c.5500G>C (PLCE1)	XP_006717953.1:p.Val1834Leu
XM_011539849.3:c.6424G>C (PLCE1)	XP_011538151.1:p.Val2142Leu
XM_011539850.3:c.5269G>C (PLCE1)	XP_011538152.1:p.Val1757Leu
XM_017016310.2:c.6424G>C (PLCE1)	XP_016871799.1:p.Val2142Leu
XM_017016311.2:c.6424G>C (PLCE1)	XP_016871800.1:p.Val2142Leu
XM_017016312.2:c.5410G>C (PLCE1)	XP_016871801.1:p.Val1804Leu
XR_002957007.1:n.3312-6476C>G (NOC3L)
NM_001288989.2:c.6334G>C (PLCE1)	NP_001275918.1:p.Val2112Leu
NM_016341.4:c.6382G>C (PLCE1) MANE Select	NP_057425.3:p.Val2128Leu