Canonical Allele Identifier: CA10636938

Gene: PLCE1

Linked Data

• ClinVar Variation Id: 301680
• ClinVar RCV Id: RCV000299500
• dbSNP Id: rs61749238
• gnomAD v4: 10-94031273-C-A
• MyVariant Identifiers: chr10:g.95791030C>A (hg19) ; chr10:g.94031273C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94031273C>A , CM000672.2:g.94031273C>A	GRCh38
NC_000010.10:g.95791030C>A , CM000672.1:g.95791030C>A	GRCh37
NC_000010.9:g.95781020C>A	NCBI36
NG_015799.1:g.42285C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685253.1:c.227C>A	ENSP00000509405.1:p.Ala76Glu
ENST00000686954.1:c.227C>A	ENSP00000508416.1:p.Ala76Glu
ENST00000689233.1:n.557C>A
ENST00000689699.1:n.557C>A
ENST00000692286.1:c.227C>A	ENSP00000509490.1:p.Ala76Glu
ENST00000692396.1:c.227C>A	ENSP00000508605.1:p.Ala76Glu
ENST00000371380.8:c.227C>A MANE Select	ENSP00000360431.2:p.Ala76Glu
ENST00000675487.1:c.227C>A	ENSP00000502340.1:p.Ala76Glu
ENST00000260766.7:c.227C>A	ENSP00000260766.3:p.Ala76Glu
ENST00000371380.7:c.227C>A	ENSP00000360431.2:p.Ala76Glu
NM_001288989.1:c.227C>A	NP_001275918.1:p.Ala76Glu
NM_016341.3:c.227C>A	NP_057425.3:p.Ala76Glu
XM_006717885.2:c.227C>A	XP_006717948.1:p.Ala76Glu
XM_006717886.2:c.227C>A	XP_006717949.1:p.Ala76Glu
XM_006717888.2:c.227C>A	XP_006717951.1:p.Ala76Glu
XM_006717889.2:c.227C>A	XP_006717952.1:p.Ala76Glu
XM_011539849.1:c.227C>A	XP_011538151.1:p.Ala76Glu
XM_011539851.1:c.227C>A	XP_011538153.1:p.Ala76Glu
XM_011539852.1:c.227C>A	XP_011538154.1:p.Ala76Glu
XM_006717885.4:c.227C>A	XP_006717948.1:p.Ala76Glu
XM_006717888.4:c.227C>A	XP_006717951.1:p.Ala76Glu
XM_006717889.4:c.227C>A	XP_006717952.1:p.Ala76Glu
XM_011539849.3:c.227C>A	XP_011538151.1:p.Ala76Glu
XM_011539851.3:c.227C>A	XP_011538153.1:p.Ala76Glu
XM_011539852.3:c.227C>A	XP_011538154.1:p.Ala76Glu
XM_017016310.2:c.227C>A	XP_016871799.1:p.Ala76Glu
XM_017016311.2:c.227C>A	XP_016871800.1:p.Ala76Glu
NM_001288989.2:c.227C>A	NP_001275918.1:p.Ala76Glu
NM_016341.4:c.227C>A MANE Select	NP_057425.3:p.Ala76Glu