Canonical Allele Identifier: CA377641806

Gene: PLCE1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298454T>A , CM000672.2:g.94298454T>A	GRCh38
NC_000010.10:g.96058211T>A , CM000672.1:g.96058211T>A	GRCh37
NC_000010.9:g.96048201T>A	NCBI36
NG_015799.1:g.309466T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4319T>A	ENSP00000360426.1:p.Ile1440Asn
ENST00000685253.1:c.*1786T>A	ENSP00000509405.1:n.*1786T>A
ENST00000685889.1:n.1978T>A
ENST00000686807.1:n.662T>A
ENST00000686954.1:c.*527T>A	ENSP00000508416.1:n.*527T>A
ENST00000688810.1:c.4271T>A	ENSP00000509140.1:p.Ile1424Asn
ENST00000689233.1:n.9451T>A
ENST00000690340.1:n.2916T>A
ENST00000692286.1:c.5111T>A	ENSP00000509490.1:p.Ile1704Asn
ENST00000692396.1:c.5195T>A	ENSP00000508605.1:p.Ile1732Asn
ENST00000371380.8:c.5243T>A MANE Select	ENSP00000360431.2:p.Ile1748Asn
ENST00000371385.8:c.4217T>A	ENSP00000360438.4:p.Ile1406Asn
ENST00000674738.1:c.3798T>A
ENST00000674827.1:c.3359T>A	ENSP00000502523.1:p.Ile1120Asn
ENST00000675218.1:c.4319T>A	ENSP00000501910.1:p.Ile1440Asn
ENST00000675487.1:c.*1176T>A	ENSP00000502340.1:n.*1176T>A
ENST00000675718.1:c.4512T>A
ENST00000676102.1:c.4088T>A	ENSP00000502811.1:p.Ile1363Asn
ENST00000260766.7:c.5243T>A	ENSP00000260766.3:p.Ile1748Asn
ENST00000371375.1:c.4319T>A	ENSP00000360426.1:p.Ile1440Asn
ENST00000371380.7:c.5243T>A	ENSP00000360431.2:p.Ile1748Asn
ENST00000371385.7:c.4319T>A	ENSP00000360438.3:p.Ile1440Asn
NM_001165979.2:c.4319T>A	NP_001159451.1:p.Ile1440Asn
NM_001288989.1:c.5195T>A	NP_001275918.1:p.Ile1732Asn
NM_016341.3:c.5243T>A	NP_057425.3:p.Ile1748Asn
XM_006717885.2:c.5285T>A	XP_006717948.1:p.Ile1762Asn
XM_006717886.2:c.5285T>A	XP_006717949.1:p.Ile1762Asn
XM_006717888.2:c.5282T>A	XP_006717951.1:p.Ile1761Asn
XM_006717889.2:c.5237T>A	XP_006717952.1:p.Ile1746Asn
XM_006717890.1:c.4361T>A	XP_006717953.1:p.Ile1454Asn
XM_011539849.1:c.5285T>A	XP_011538151.1:p.Ile1762Asn
XM_011539850.1:c.4130T>A	XP_011538152.1:p.Ile1377Asn
XM_006717885.4:c.5285T>A	XP_006717948.1:p.Ile1762Asn
XM_006717888.4:c.5282T>A	XP_006717951.1:p.Ile1761Asn
XM_006717889.4:c.5237T>A	XP_006717952.1:p.Ile1746Asn
XM_006717890.3:c.4361T>A	XP_006717953.1:p.Ile1454Asn
XM_011539849.3:c.5285T>A	XP_011538151.1:p.Ile1762Asn
XM_011539850.3:c.4130T>A	XP_011538152.1:p.Ile1377Asn
XM_017016310.2:c.5285T>A	XP_016871799.1:p.Ile1762Asn
XM_017016311.2:c.5285T>A	XP_016871800.1:p.Ile1762Asn
XM_017016312.2:c.4271T>A	XP_016871801.1:p.Ile1424Asn
NM_001288989.2:c.5195T>A	NP_001275918.1:p.Ile1732Asn
NM_016341.4:c.5243T>A MANE Select	NP_057425.3:p.Ile1748Asn