Canonical Allele Identifier: CA377641739

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298420T>G , CM000672.2:g.94298420T>G	GRCh38
NC_000010.10:g.96058177T>G , CM000672.1:g.96058177T>G	GRCh37
NC_000010.9:g.96048167T>G	NCBI36
NG_015799.1:g.309432T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_016341.4:c.5209T>G MANE Select	NP_057425.3:p.Ser1737Ala
ENST00000371380.8:c.5209T>G MANE Select	ENSP00000360431.2:p.Ser1737Ala
NM_001165979.2:c.4285T>G	NP_001159451.1:p.Ser1429Ala
NM_001288989.1:c.5161T>G	NP_001275918.1:p.Ser1721Ala
NM_001288989.2:c.5161T>G	NP_001275918.1:p.Ser1721Ala
NM_016341.3:c.5209T>G	NP_057425.3:p.Ser1737Ala
ENST00000260766.7:c.5209T>G	ENSP00000260766.3:p.Ser1737Ala
ENST00000371375.1:c.4285T>G	ENSP00000360426.1:p.Ser1429Ala
ENST00000371375.2:c.4285T>G	ENSP00000360426.1:p.Ser1429Ala
ENST00000371380.7:c.5209T>G	ENSP00000360431.2:p.Ser1737Ala
ENST00000371385.7:c.4285T>G	ENSP00000360438.3:p.Ser1429Ala
ENST00000371385.8:c.4183T>G	ENSP00000360438.4:p.Ser1395Ala
ENST00000674738.1:c.3764T>G
ENST00000674827.1:c.3325T>G	ENSP00000502523.1:p.Ser1109Ala
ENST00000675218.1:c.4285T>G	ENSP00000501910.1:p.Ser1429Ala
ENST00000675487.1:c.*1142T>G	ENSP00000502340.1:n.*1142T>G
ENST00000675718.1:c.4478T>G
ENST00000676102.1:c.4054T>G	ENSP00000502811.1:p.Ser1352Ala
ENST00000685253.1:c.*1752T>G	ENSP00000509405.1:n.*1752T>G
ENST00000685889.1:n.1944T>G
ENST00000686807.1:n.628T>G
ENST00000686954.1:c.*493T>G	ENSP00000508416.1:n.*493T>G
ENST00000688810.1:c.4237T>G	ENSP00000509140.1:p.Ser1413Ala
ENST00000689233.1:n.9417T>G
ENST00000690340.1:n.2882T>G
ENST00000692286.1:c.5077T>G	ENSP00000509490.1:p.Ser1693Ala
ENST00000692396.1:c.5161T>G	ENSP00000508605.1:p.Ser1721Ala
XM_006717885.2:c.5251T>G	XP_006717948.1:p.Ser1751Ala
XM_006717885.4:c.5251T>G	XP_006717948.1:p.Ser1751Ala
XM_006717886.2:c.5251T>G	XP_006717949.1:p.Ser1751Ala
XM_006717888.2:c.5248T>G	XP_006717951.1:p.Ser1750Ala
XM_006717888.4:c.5248T>G	XP_006717951.1:p.Ser1750Ala
XM_006717889.2:c.5203T>G	XP_006717952.1:p.Ser1735Ala
XM_006717889.4:c.5203T>G	XP_006717952.1:p.Ser1735Ala
XM_006717890.1:c.4327T>G	XP_006717953.1:p.Ser1443Ala
XM_006717890.3:c.4327T>G	XP_006717953.1:p.Ser1443Ala
XM_011539849.1:c.5251T>G	XP_011538151.1:p.Ser1751Ala
XM_011539849.3:c.5251T>G	XP_011538151.1:p.Ser1751Ala
XM_011539850.1:c.4096T>G	XP_011538152.1:p.Ser1366Ala
XM_011539850.3:c.4096T>G	XP_011538152.1:p.Ser1366Ala
XM_017016310.2:c.5251T>G	XP_016871799.1:p.Ser1751Ala
XM_017016311.2:c.5251T>G	XP_016871800.1:p.Ser1751Ala
XM_017016312.2:c.4237T>G	XP_016871801.1:p.Ser1413Ala