Canonical Allele Identifier: CA377641752

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96058184T>A (hg19) ; chr10:g.94298427T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298427T>A , CM000672.2:g.94298427T>A	GRCh38
NC_000010.10:g.96058184T>A , CM000672.1:g.96058184T>A	GRCh37
NC_000010.9:g.96048174T>A	NCBI36
NG_015799.1:g.309439T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4292T>A	ENSP00000360426.1:p.Leu1431His
ENST00000685253.1:c.*1759T>A	ENSP00000509405.1:n.*1759T>A
ENST00000685889.1:n.1951T>A
ENST00000686807.1:n.635T>A
ENST00000686954.1:c.*500T>A	ENSP00000508416.1:n.*500T>A
ENST00000688810.1:c.4244T>A	ENSP00000509140.1:p.Leu1415His
ENST00000689233.1:n.9424T>A
ENST00000690340.1:n.2889T>A
ENST00000692286.1:c.5084T>A	ENSP00000509490.1:p.Leu1695His
ENST00000692396.1:c.5168T>A	ENSP00000508605.1:p.Leu1723His
ENST00000371380.8:c.5216T>A MANE Select	ENSP00000360431.2:p.Leu1739His
ENST00000371385.8:c.4190T>A	ENSP00000360438.4:p.Leu1397His
ENST00000674738.1:c.3771T>A
ENST00000674827.1:c.3332T>A	ENSP00000502523.1:p.Leu1111His
ENST00000675218.1:c.4292T>A	ENSP00000501910.1:p.Leu1431His
ENST00000675487.1:c.*1149T>A	ENSP00000502340.1:n.*1149T>A
ENST00000675718.1:c.4485T>A
ENST00000676102.1:c.4061T>A	ENSP00000502811.1:p.Leu1354His
ENST00000260766.7:c.5216T>A	ENSP00000260766.3:p.Leu1739His
ENST00000371375.1:c.4292T>A	ENSP00000360426.1:p.Leu1431His
ENST00000371380.7:c.5216T>A	ENSP00000360431.2:p.Leu1739His
ENST00000371385.7:c.4292T>A	ENSP00000360438.3:p.Leu1431His
NM_001165979.2:c.4292T>A	NP_001159451.1:p.Leu1431His
NM_001288989.1:c.5168T>A	NP_001275918.1:p.Leu1723His
NM_016341.3:c.5216T>A	NP_057425.3:p.Leu1739His
XM_006717885.2:c.5258T>A	XP_006717948.1:p.Leu1753His
XM_006717886.2:c.5258T>A	XP_006717949.1:p.Leu1753His
XM_006717888.2:c.5255T>A	XP_006717951.1:p.Leu1752His
XM_006717889.2:c.5210T>A	XP_006717952.1:p.Leu1737His
XM_006717890.1:c.4334T>A	XP_006717953.1:p.Leu1445His
XM_011539849.1:c.5258T>A	XP_011538151.1:p.Leu1753His
XM_011539850.1:c.4103T>A	XP_011538152.1:p.Leu1368His
XM_006717885.4:c.5258T>A	XP_006717948.1:p.Leu1753His
XM_006717888.4:c.5255T>A	XP_006717951.1:p.Leu1752His
XM_006717889.4:c.5210T>A	XP_006717952.1:p.Leu1737His
XM_006717890.3:c.4334T>A	XP_006717953.1:p.Leu1445His
XM_011539849.3:c.5258T>A	XP_011538151.1:p.Leu1753His
XM_011539850.3:c.4103T>A	XP_011538152.1:p.Leu1368His
XM_017016310.2:c.5258T>A	XP_016871799.1:p.Leu1753His
XM_017016311.2:c.5258T>A	XP_016871800.1:p.Leu1753His
XM_017016312.2:c.4244T>A	XP_016871801.1:p.Leu1415His
NM_001288989.2:c.5168T>A	NP_001275918.1:p.Leu1723His
NM_016341.4:c.5216T>A MANE Select	NP_057425.3:p.Leu1739His