Canonical Allele Identifier: CA377640867

Gene: PLCE1

Linked Data

• dbSNP Id: rs2052711841
• gnomAD v4: 10-94293612-G-A
• MyVariant Identifiers: chr10:g.96053369G>A (hg19) ; chr10:g.94293612G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293612G>A , CM000672.2:g.94293612G>A	GRCh38
NC_000010.10:g.96053369G>A , CM000672.1:g.96053369G>A	GRCh37
NC_000010.9:g.96043359G>A	NCBI36
NG_015799.1:g.304624G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4216G>A	ENSP00000360426.1:p.Ala1406Thr
ENST00000685253.1:c.*1683G>A	ENSP00000509405.1:n.*1683G>A
ENST00000685889.1:n.1875G>A
ENST00000686807.1:n.559G>A
ENST00000686954.1:c.*424G>A	ENSP00000508416.1:n.*424G>A
ENST00000688810.1:c.4168G>A	ENSP00000509140.1:p.Ala1390Thr
ENST00000689233.1:n.9348G>A
ENST00000690340.1:n.2813G>A
ENST00000692286.1:c.5036-4767G>A	ENSP00000509490.1:n.5036-4767G>A
ENST00000692396.1:c.5092G>A	ENSP00000508605.1:p.Ala1698Thr
ENST00000371380.8:c.5140G>A MANE Select	ENSP00000360431.2:p.Ala1714Thr
ENST00000371385.8:c.4114G>A	ENSP00000360438.4:p.Ala1372Thr
ENST00000674738.1:c.3695G>A
ENST00000674827.1:c.3256G>A	ENSP00000502523.1:p.Ala1086Thr
ENST00000675218.1:c.4216G>A	ENSP00000501910.1:p.Ala1406Thr
ENST00000675487.1:c.*1073G>A	ENSP00000502340.1:n.*1073G>A
ENST00000675718.1:c.4409G>A
ENST00000676102.1:c.3985G>A	ENSP00000502811.1:p.Ala1329Thr
ENST00000260766.7:c.5140G>A	ENSP00000260766.3:p.Ala1714Thr
ENST00000371375.1:c.4216G>A	ENSP00000360426.1:p.Ala1406Thr
ENST00000371380.7:c.5140G>A	ENSP00000360431.2:p.Ala1714Thr
ENST00000371385.7:c.4216G>A	ENSP00000360438.3:p.Ala1406Thr
NM_001165979.2:c.4216G>A	NP_001159451.1:p.Ala1406Thr
NM_001288989.1:c.5092G>A	NP_001275918.1:p.Ala1698Thr
NM_016341.3:c.5140G>A	NP_057425.3:p.Ala1714Thr
XM_006717885.2:c.5182G>A	XP_006717948.1:p.Ala1728Thr
XM_006717886.2:c.5182G>A	XP_006717949.1:p.Ala1728Thr
XM_006717888.2:c.5179G>A	XP_006717951.1:p.Ala1727Thr
XM_006717889.2:c.5134G>A	XP_006717952.1:p.Ala1712Thr
XM_006717890.1:c.4258G>A	XP_006717953.1:p.Ala1420Thr
XM_011539849.1:c.5182G>A	XP_011538151.1:p.Ala1728Thr
XM_011539850.1:c.4027G>A	XP_011538152.1:p.Ala1343Thr
XM_006717885.4:c.5182G>A	XP_006717948.1:p.Ala1728Thr
XM_006717888.4:c.5179G>A	XP_006717951.1:p.Ala1727Thr
XM_006717889.4:c.5134G>A	XP_006717952.1:p.Ala1712Thr
XM_006717890.3:c.4258G>A	XP_006717953.1:p.Ala1420Thr
XM_011539849.3:c.5182G>A	XP_011538151.1:p.Ala1728Thr
XM_011539850.3:c.4027G>A	XP_011538152.1:p.Ala1343Thr
XM_017016310.2:c.5182G>A	XP_016871799.1:p.Ala1728Thr
XM_017016311.2:c.5182G>A	XP_016871800.1:p.Ala1728Thr
XM_017016312.2:c.4168G>A	XP_016871801.1:p.Ala1390Thr
NM_001288989.2:c.5092G>A	NP_001275918.1:p.Ala1698Thr
NM_016341.4:c.5140G>A MANE Select	NP_057425.3:p.Ala1714Thr