Canonical Allele Identifier: CA595638146

Gene: PLCE1

Linked Data

• dbSNP Id: rs1483143797
• gnomAD v2: 10-96058432-G-A
• gnomAD v4: 10-94298675-G-A
• MyVariant Identifiers: chr10:g.96058432G>A (hg19) ; chr10:g.94298675G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298675G>A , CM000672.2:g.94298675G>A	GRCh38
NC_000010.10:g.96058432G>A , CM000672.1:g.96058432G>A	GRCh37
NC_000010.9:g.96048422G>A	NCBI36
NG_015799.1:g.309687G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4534+6G>A	ENSP00000360426.1:n.4534+6G>A
ENST00000685253.1:c.*2001+6G>A	ENSP00000509405.1:n.*2001+6G>A
ENST00000685889.1:n.2193+6G>A
ENST00000686807.1:n.877+6G>A
ENST00000686954.1:c.*742+6G>A	ENSP00000508416.1:n.*742+6G>A
ENST00000688810.1:c.4486+6G>A	ENSP00000509140.1:n.4486+6G>A
ENST00000689233.1:n.9666+6G>A
ENST00000690340.1:n.3131+6G>A
ENST00000692286.1:c.5326+6G>A	ENSP00000509490.1:n.5326+6G>A
ENST00000692396.1:c.5410+6G>A	ENSP00000508605.1:n.5410+6G>A
ENST00000371380.8:c.5458+6G>A MANE Select	ENSP00000360431.2:n.5458+6G>A
ENST00000371385.8:c.4432+6G>A	ENSP00000360438.4:n.4432+6G>A
ENST00000674738.1:c.4013+6G>A
ENST00000674827.1:c.3574+6G>A	ENSP00000502523.1:n.3574+6G>A
ENST00000675218.1:c.4534+6G>A	ENSP00000501910.1:n.4534+6G>A
ENST00000675487.1:c.*1391+6G>A	ENSP00000502340.1:n.*1391+6G>A
ENST00000675718.1:c.4727+6G>A
ENST00000260766.7:c.5458+6G>A	ENSP00000260766.3:n.5458+6G>A
ENST00000371375.1:c.4534+6G>A	ENSP00000360426.1:n.4534+6G>A
ENST00000371380.7:c.5458+6G>A	ENSP00000360431.2:n.5458+6G>A
ENST00000371385.7:c.4534+6G>A	ENSP00000360438.3:n.4534+6G>A
NM_001165979.2:c.4534+6G>A	NP_001159451.1:n.4534+6G>A
NM_001288989.1:c.5410+6G>A	NP_001275918.1:n.5410+6G>A
NM_016341.3:c.5458+6G>A	NP_057425.3:n.5458+6G>A
XM_006717885.2:c.5500+6G>A	XP_006717948.1:n.5500+6G>A
XM_006717886.2:c.5500+6G>A	XP_006717949.1:n.5500+6G>A
XM_006717888.2:c.5497+6G>A	XP_006717951.1:n.5497+6G>A
XM_006717889.2:c.5452+6G>A	XP_006717952.1:n.5452+6G>A
XM_006717890.1:c.4576+6G>A	XP_006717953.1:n.4576+6G>A
XM_011539849.1:c.5500+6G>A	XP_011538151.1:n.5500+6G>A
XM_011539850.1:c.4345+6G>A	XP_011538152.1:n.4345+6G>A
XM_006717885.4:c.5500+6G>A	XP_006717948.1:n.5500+6G>A
XM_006717888.4:c.5497+6G>A	XP_006717951.1:n.5497+6G>A
XM_006717889.4:c.5452+6G>A	XP_006717952.1:n.5452+6G>A
XM_006717890.3:c.4576+6G>A	XP_006717953.1:n.4576+6G>A
XM_011539849.3:c.5500+6G>A	XP_011538151.1:n.5500+6G>A
XM_011539850.3:c.4345+6G>A	XP_011538152.1:n.4345+6G>A
XM_017016310.2:c.5500+6G>A	XP_016871799.1:n.5500+6G>A
XM_017016311.2:c.5500+6G>A	XP_016871800.1:n.5500+6G>A
XM_017016312.2:c.4486+6G>A	XP_016871801.1:n.4486+6G>A
NM_001288989.2:c.5410+6G>A	NP_001275918.1:n.5410+6G>A
NM_016341.4:c.5458+6G>A MANE Select	NP_057425.3:n.5458+6G>A