Canonical Allele Identifier: CA5612211

Gene: PLCE1

Linked Data

• ClinVar Variation Id: 260734
• ClinVar RCV Id: RCV000252737 ; RCV000610433 ; RCV000712698
• dbSNP Id: rs17109674
• ExAC: 10:95791763 G / A
• gnomAD v2: 10-95791763-G-A
• gnomAD v3: 10-94032006-G-A
• gnomAD v4: 10-94032006-G-A
• MyVariant Identifiers: chr10:g.95791763G>A (hg19) ; chr10:g.94032006G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94032006G>A , CM000672.2:g.94032006G>A	GRCh38
NC_000010.10:g.95791763G>A , CM000672.1:g.95791763G>A	GRCh37
NC_000010.9:g.95781753G>A	NCBI36
NG_015799.1:g.43018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685253.1:c.960G>A	ENSP00000509405.1:p.Glu320=
ENST00000686954.1:c.960G>A	ENSP00000508416.1:p.Glu320=
ENST00000689233.1:n.1290G>A
ENST00000689699.1:n.1290G>A
ENST00000692286.1:c.960G>A	ENSP00000509490.1:p.Glu320=
ENST00000692396.1:c.960G>A	ENSP00000508605.1:p.Glu320=
ENST00000371380.8:c.960G>A MANE Select	ENSP00000360431.2:p.Glu320=
ENST00000675487.1:c.960G>A	ENSP00000502340.1:p.Glu320=
ENST00000675718.1:c.31G>A
ENST00000260766.7:c.960G>A	ENSP00000260766.3:p.Glu320=
ENST00000371380.7:c.960G>A	ENSP00000360431.2:p.Glu320=
NM_001288989.1:c.960G>A	NP_001275918.1:p.Glu320=
NM_016341.3:c.960G>A	NP_057425.3:p.Glu320=
XM_006717885.2:c.960G>A	XP_006717948.1:p.Glu320=
XM_006717886.2:c.960G>A	XP_006717949.1:p.Glu320=
XM_006717888.2:c.960G>A	XP_006717951.1:p.Glu320=
XM_006717889.2:c.960G>A	XP_006717952.1:p.Glu320=
XM_011539849.1:c.960G>A	XP_011538151.1:p.Glu320=
XM_011539851.1:c.960G>A	XP_011538153.1:p.Glu320=
XM_011539852.1:c.960G>A	XP_011538154.1:p.Glu320=
XM_006717885.4:c.960G>A	XP_006717948.1:p.Glu320=
XM_006717888.4:c.960G>A	XP_006717951.1:p.Glu320=
XM_006717889.4:c.960G>A	XP_006717952.1:p.Glu320=
XM_011539849.3:c.960G>A	XP_011538151.1:p.Glu320=
XM_011539851.3:c.960G>A	XP_011538153.1:p.Glu320=
XM_011539852.3:c.960G>A	XP_011538154.1:p.Glu320=
XM_017016310.2:c.960G>A	XP_016871799.1:p.Glu320=
XM_017016311.2:c.960G>A	XP_016871800.1:p.Glu320=
NM_001288989.2:c.960G>A	NP_001275918.1:p.Glu320=
NM_016341.4:c.960G>A MANE Select	NP_057425.3:p.Glu320=