Canonical Allele Identifier: CA377642024

Gene: PLCE1

Linked Data

• gnomAD: 10:96058310 C / T
• MyVariant Identifiers: chr10:g.96058310C>T (hg19) ; chr10:g.94298553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298553C>T , CM000672.2:g.94298553C>T	GRCh38
NC_000010.10:g.96058310C>T , CM000672.1:g.96058310C>T	GRCh37
NC_000010.9:g.96048300C>T	NCBI36
NG_015799.1:g.309565C>T

Transcript Alleles

HGVS	Amino-acid change
NM_001165979.2:c.4418C>T	NP_001159451.1:p.Ala1473Val
NM_001288989.1:c.5294C>T	NP_001275918.1:p.Ala1765Val
NM_016341.3:c.5342C>T	NP_057425.3:p.Ala1781Val
XM_006717885.2:c.5384C>T	XP_006717948.1:p.Ala1795Val
XM_006717886.2:c.5384C>T	XP_006717949.1:p.Ala1795Val
XM_006717888.2:c.5381C>T	XP_006717951.1:p.Ala1794Val
XM_006717889.2:c.5336C>T	XP_006717952.1:p.Ala1779Val
XM_006717890.1:c.4460C>T	XP_006717953.1:p.Ala1487Val
XM_011539849.1:c.5384C>T	XP_011538151.1:p.Ala1795Val
XM_011539850.1:c.4229C>T	XP_011538152.1:p.Ala1410Val
XM_006717885.4:c.5384C>T	XP_006717948.1:p.Ala1795Val
XM_006717888.4:c.5381C>T	XP_006717951.1:p.Ala1794Val
XM_006717889.4:c.5336C>T	XP_006717952.1:p.Ala1779Val
XM_006717890.3:c.4460C>T	XP_006717953.1:p.Ala1487Val
XM_011539849.3:c.5384C>T	XP_011538151.1:p.Ala1795Val
XM_011539850.3:c.4229C>T	XP_011538152.1:p.Ala1410Val
XM_017016310.2:c.5384C>T	XP_016871799.1:p.Ala1795Val
XM_017016311.2:c.5384C>T	XP_016871800.1:p.Ala1795Val
XM_017016312.2:c.4370C>T	XP_016871801.1:p.Ala1457Val
NM_001288989.2:c.5294C>T	NP_001275918.1:p.Ala1765Val
NM_016341.4:c.5342C>T MANE Select	NP_057425.3:p.Ala1781Val
ENST00000260766.7:c.5342C>T	ENSP00000260766.3:p.Ala1781Val
ENST00000371375.1:n.4418C>T	ENSP00000360426.1:p.Ala1473Val
ENST00000371380.7:c.5342C>T	ENSP00000360431.2:p.Ala1781Val
ENST00000371385.7:c.4418C>T	ENSP00000360438.3:p.Ala1473Val