Canonical Allele Identifier: CA377642225

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96058389T>G (hg19) ; chr10:g.94298632T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298632T>G , CM000672.2:g.94298632T>G	GRCh38
NC_000010.10:g.96058389T>G , CM000672.1:g.96058389T>G	GRCh37
NC_000010.9:g.96048379T>G	NCBI36
NG_015799.1:g.309644T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4497T>G	ENSP00000360426.1:p.His1499Gln
ENST00000685253.1:c.*1964T>G	ENSP00000509405.1:n.*1964T>G
ENST00000685889.1:n.2156T>G
ENST00000686807.1:n.840T>G
ENST00000686954.1:c.*705T>G	ENSP00000508416.1:n.*705T>G
ENST00000688810.1:c.4449T>G	ENSP00000509140.1:p.His1483Gln
ENST00000689233.1:n.9629T>G
ENST00000690340.1:n.3094T>G
ENST00000692286.1:c.5289T>G	ENSP00000509490.1:p.His1763Gln
ENST00000692396.1:c.5373T>G	ENSP00000508605.1:p.His1791Gln
ENST00000371380.8:c.5421T>G MANE Select	ENSP00000360431.2:p.His1807Gln
ENST00000371385.8:c.4395T>G	ENSP00000360438.4:p.His1465Gln
ENST00000674738.1:c.3976T>G
ENST00000674827.1:c.3537T>G	ENSP00000502523.1:p.His1179Gln
ENST00000675218.1:c.4497T>G	ENSP00000501910.1:p.His1499Gln
ENST00000675487.1:c.*1354T>G	ENSP00000502340.1:n.*1354T>G
ENST00000675718.1:c.4690T>G
ENST00000260766.7:c.5421T>G	ENSP00000260766.3:p.His1807Gln
ENST00000371375.1:c.4497T>G	ENSP00000360426.1:p.His1499Gln
ENST00000371380.7:c.5421T>G	ENSP00000360431.2:p.His1807Gln
ENST00000371385.7:c.4497T>G	ENSP00000360438.3:p.His1499Gln
NM_001165979.2:c.4497T>G	NP_001159451.1:p.His1499Gln
NM_001288989.1:c.5373T>G	NP_001275918.1:p.His1791Gln
NM_016341.3:c.5421T>G	NP_057425.3:p.His1807Gln
XM_006717885.2:c.5463T>G	XP_006717948.1:p.His1821Gln
XM_006717886.2:c.5463T>G	XP_006717949.1:p.His1821Gln
XM_006717888.2:c.5460T>G	XP_006717951.1:p.His1820Gln
XM_006717889.2:c.5415T>G	XP_006717952.1:p.His1805Gln
XM_006717890.1:c.4539T>G	XP_006717953.1:p.His1513Gln
XM_011539849.1:c.5463T>G	XP_011538151.1:p.His1821Gln
XM_011539850.1:c.4308T>G	XP_011538152.1:p.His1436Gln
XM_006717885.4:c.5463T>G	XP_006717948.1:p.His1821Gln
XM_006717888.4:c.5460T>G	XP_006717951.1:p.His1820Gln
XM_006717889.4:c.5415T>G	XP_006717952.1:p.His1805Gln
XM_006717890.3:c.4539T>G	XP_006717953.1:p.His1513Gln
XM_011539849.3:c.5463T>G	XP_011538151.1:p.His1821Gln
XM_011539850.3:c.4308T>G	XP_011538152.1:p.His1436Gln
XM_017016310.2:c.5463T>G	XP_016871799.1:p.His1821Gln
XM_017016311.2:c.5463T>G	XP_016871800.1:p.His1821Gln
XM_017016312.2:c.4449T>G	XP_016871801.1:p.His1483Gln
NM_001288989.2:c.5373T>G	NP_001275918.1:p.His1791Gln
NM_016341.4:c.5421T>G MANE Select	NP_057425.3:p.His1807Gln