Canonical Allele Identifier: CA211623824

Gene: PLCE1

Linked Data

• ClinVar Variation Id: 2554389
• ClinVar RCV Id: RCV003308487
• dbSNP Id: rs991464575
• gnomAD v4: 10-94270535-C-A
• MyVariant Identifiers: chr10:g.96030292C>A (hg19) ; chr10:g.94270535C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94270535C>A , CM000672.2:g.94270535C>A	GRCh38
NC_000010.10:g.96030292C>A , CM000672.1:g.96030292C>A	GRCh37
NC_000010.9:g.96020282C>A	NCBI36
NG_015799.1:g.281547C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.3515C>A	ENSP00000360426.1:p.Pro1172Gln
ENST00000685253.1:c.*982C>A	ENSP00000509405.1:n.*982C>A
ENST00000685889.1:n.1174C>A
ENST00000686954.1:c.4439C>A	ENSP00000508416.1:p.Pro1480Gln
ENST00000688810.1:c.3467C>A	ENSP00000509140.1:p.Pro1156Gln
ENST00000689233.1:n.4769C>A
ENST00000692286.1:c.4439C>A	ENSP00000509490.1:p.Pro1480Gln
ENST00000692396.1:c.4391C>A	ENSP00000508605.1:p.Pro1464Gln
ENST00000371380.8:c.4439C>A MANE Select	ENSP00000360431.2:p.Pro1480Gln
ENST00000371385.8:c.3413C>A	ENSP00000360438.4:p.Pro1138Gln
ENST00000674738.1:c.2844C>A
ENST00000674827.1:c.2516C>A	ENSP00000502523.1:p.Pro839Gln
ENST00000675218.1:c.3515C>A	ENSP00000501910.1:p.Pro1172Gln
ENST00000675487.1:c.*372C>A	ENSP00000502340.1:n.*372C>A
ENST00000675718.1:c.3666C>A
ENST00000676102.1:c.3284C>A	ENSP00000502811.1:p.Pro1095Gln
ENST00000260766.7:c.4439C>A	ENSP00000260766.3:p.Pro1480Gln
ENST00000371375.1:c.3515C>A	ENSP00000360426.1:p.Pro1172Gln
ENST00000371380.7:c.4439C>A	ENSP00000360431.2:p.Pro1480Gln
ENST00000371385.7:c.3515C>A	ENSP00000360438.3:p.Pro1172Gln
NM_001165979.2:c.3515C>A	NP_001159451.1:p.Pro1172Gln
NM_001288989.1:c.4391C>A	NP_001275918.1:p.Pro1464Gln
NM_016341.3:c.4439C>A	NP_057425.3:p.Pro1480Gln
XM_006717885.2:c.4439C>A	XP_006717948.1:p.Pro1480Gln
XM_006717886.2:c.4439C>A	XP_006717949.1:p.Pro1480Gln
XM_006717888.2:c.4439C>A	XP_006717951.1:p.Pro1480Gln
XM_006717889.2:c.4391C>A	XP_006717952.1:p.Pro1464Gln
XM_006717890.1:c.3515C>A	XP_006717953.1:p.Pro1172Gln
XM_011539849.1:c.4439C>A	XP_011538151.1:p.Pro1480Gln
XM_011539850.1:c.3284C>A	XP_011538152.1:p.Pro1095Gln
XM_011539851.1:c.4439C>A	XP_011538153.1:p.Pro1480Gln
XM_011539852.1:c.4439C>A	XP_011538154.1:p.Pro1480Gln
XM_006717885.4:c.4439C>A	XP_006717948.1:p.Pro1480Gln
XM_006717888.4:c.4439C>A	XP_006717951.1:p.Pro1480Gln
XM_006717889.4:c.4391C>A	XP_006717952.1:p.Pro1464Gln
XM_006717890.3:c.3515C>A	XP_006717953.1:p.Pro1172Gln
XM_011539849.3:c.4439C>A	XP_011538151.1:p.Pro1480Gln
XM_011539850.3:c.3284C>A	XP_011538152.1:p.Pro1095Gln
XM_011539851.3:c.4439C>A	XP_011538153.1:p.Pro1480Gln
XM_011539852.3:c.4439C>A	XP_011538154.1:p.Pro1480Gln
XM_017016310.2:c.4439C>A	XP_016871799.1:p.Pro1480Gln
XM_017016311.2:c.4439C>A	XP_016871800.1:p.Pro1480Gln
XM_017016312.2:c.3467C>A	XP_016871801.1:p.Pro1156Gln
NM_001288989.2:c.4391C>A	NP_001275918.1:p.Pro1464Gln
NM_016341.4:c.4439C>A MANE Select	NP_057425.3:p.Pro1480Gln