Canonical Allele Identifier: CA211599625

Gene: PLCE1

Linked Data

• dbSNP Id: rs1007158725
• gnomAD v3: 10-94298452-T-A
• gnomAD v4: 10-94298452-T-A
• MyVariant Identifiers: chr10:g.96058209T>A (hg19) ; chr10:g.94298452T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298452T>A , CM000672.2:g.94298452T>A	GRCh38
NC_000010.10:g.96058209T>A , CM000672.1:g.96058209T>A	GRCh37
NC_000010.9:g.96048199T>A	NCBI36
NG_015799.1:g.309464T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4317T>A	ENSP00000360426.1:p.Ala1439=
ENST00000685253.1:c.*1784T>A	ENSP00000509405.1:n.*1784T>A
ENST00000685889.1:n.1976T>A
ENST00000686807.1:n.660T>A
ENST00000686954.1:c.*525T>A	ENSP00000508416.1:n.*525T>A
ENST00000688810.1:c.4269T>A	ENSP00000509140.1:p.Ala1423=
ENST00000689233.1:n.9449T>A
ENST00000690340.1:n.2914T>A
ENST00000692286.1:c.5109T>A	ENSP00000509490.1:p.Ala1703=
ENST00000692396.1:c.5193T>A	ENSP00000508605.1:p.Ala1731=
ENST00000371380.8:c.5241T>A MANE Select	ENSP00000360431.2:p.Ala1747=
ENST00000371385.8:c.4215T>A	ENSP00000360438.4:p.Ala1405=
ENST00000674738.1:c.3796T>A
ENST00000674827.1:c.3357T>A	ENSP00000502523.1:p.Ala1119=
ENST00000675218.1:c.4317T>A	ENSP00000501910.1:p.Ala1439=
ENST00000675487.1:c.*1174T>A	ENSP00000502340.1:n.*1174T>A
ENST00000675718.1:c.4510T>A
ENST00000676102.1:c.4086T>A	ENSP00000502811.1:p.Ala1362=
ENST00000260766.7:c.5241T>A	ENSP00000260766.3:p.Ala1747=
ENST00000371375.1:c.4317T>A	ENSP00000360426.1:p.Ala1439=
ENST00000371380.7:c.5241T>A	ENSP00000360431.2:p.Ala1747=
ENST00000371385.7:c.4317T>A	ENSP00000360438.3:p.Ala1439=
NM_001165979.2:c.4317T>A	NP_001159451.1:p.Ala1439=
NM_001288989.1:c.5193T>A	NP_001275918.1:p.Ala1731=
NM_016341.3:c.5241T>A	NP_057425.3:p.Ala1747=
XM_006717885.2:c.5283T>A	XP_006717948.1:p.Ala1761=
XM_006717886.2:c.5283T>A	XP_006717949.1:p.Ala1761=
XM_006717888.2:c.5280T>A	XP_006717951.1:p.Ala1760=
XM_006717889.2:c.5235T>A	XP_006717952.1:p.Ala1745=
XM_006717890.1:c.4359T>A	XP_006717953.1:p.Ala1453=
XM_011539849.1:c.5283T>A	XP_011538151.1:p.Ala1761=
XM_011539850.1:c.4128T>A	XP_011538152.1:p.Ala1376=
XM_006717885.4:c.5283T>A	XP_006717948.1:p.Ala1761=
XM_006717888.4:c.5280T>A	XP_006717951.1:p.Ala1760=
XM_006717889.4:c.5235T>A	XP_006717952.1:p.Ala1745=
XM_006717890.3:c.4359T>A	XP_006717953.1:p.Ala1453=
XM_011539849.3:c.5283T>A	XP_011538151.1:p.Ala1761=
XM_011539850.3:c.4128T>A	XP_011538152.1:p.Ala1376=
XM_017016310.2:c.5283T>A	XP_016871799.1:p.Ala1761=
XM_017016311.2:c.5283T>A	XP_016871800.1:p.Ala1761=
XM_017016312.2:c.4269T>A	XP_016871801.1:p.Ala1423=
NM_001288989.2:c.5193T>A	NP_001275918.1:p.Ala1731=
NM_016341.4:c.5241T>A MANE Select	NP_057425.3:p.Ala1747=