Canonical Allele Identifier: CA377641885

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96058246C>A (hg19) ; chr10:g.94298489C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298489C>A , CM000672.2:g.94298489C>A	GRCh38
NC_000010.10:g.96058246C>A , CM000672.1:g.96058246C>A	GRCh37
NC_000010.9:g.96048236C>A	NCBI36
NG_015799.1:g.309501C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4354C>A	ENSP00000360426.1:p.Leu1452Met
ENST00000685253.1:c.*1821C>A	ENSP00000509405.1:n.*1821C>A
ENST00000685889.1:n.2013C>A
ENST00000686807.1:n.697C>A
ENST00000686954.1:c.*562C>A	ENSP00000508416.1:n.*562C>A
ENST00000688810.1:c.4306C>A	ENSP00000509140.1:p.Leu1436Met
ENST00000689233.1:n.9486C>A
ENST00000690340.1:n.2951C>A
ENST00000692286.1:c.5146C>A	ENSP00000509490.1:p.Leu1716Met
ENST00000692396.1:c.5230C>A	ENSP00000508605.1:p.Leu1744Met
ENST00000371380.8:c.5278C>A MANE Select	ENSP00000360431.2:p.Leu1760Met
ENST00000371385.8:c.4252C>A	ENSP00000360438.4:p.Leu1418Met
ENST00000674738.1:c.3833C>A
ENST00000674827.1:c.3394C>A	ENSP00000502523.1:p.Leu1132Met
ENST00000675218.1:c.4354C>A	ENSP00000501910.1:p.Leu1452Met
ENST00000675487.1:c.*1211C>A	ENSP00000502340.1:n.*1211C>A
ENST00000675718.1:c.4547C>A
ENST00000260766.7:c.5278C>A	ENSP00000260766.3:p.Leu1760Met
ENST00000371375.1:c.4354C>A	ENSP00000360426.1:p.Leu1452Met
ENST00000371380.7:c.5278C>A	ENSP00000360431.2:p.Leu1760Met
ENST00000371385.7:c.4354C>A	ENSP00000360438.3:p.Leu1452Met
NM_001165979.2:c.4354C>A	NP_001159451.1:p.Leu1452Met
NM_001288989.1:c.5230C>A	NP_001275918.1:p.Leu1744Met
NM_016341.3:c.5278C>A	NP_057425.3:p.Leu1760Met
XM_006717885.2:c.5320C>A	XP_006717948.1:p.Leu1774Met
XM_006717886.2:c.5320C>A	XP_006717949.1:p.Leu1774Met
XM_006717888.2:c.5317C>A	XP_006717951.1:p.Leu1773Met
XM_006717889.2:c.5272C>A	XP_006717952.1:p.Leu1758Met
XM_006717890.1:c.4396C>A	XP_006717953.1:p.Leu1466Met
XM_011539849.1:c.5320C>A	XP_011538151.1:p.Leu1774Met
XM_011539850.1:c.4165C>A	XP_011538152.1:p.Leu1389Met
XM_006717885.4:c.5320C>A	XP_006717948.1:p.Leu1774Met
XM_006717888.4:c.5317C>A	XP_006717951.1:p.Leu1773Met
XM_006717889.4:c.5272C>A	XP_006717952.1:p.Leu1758Met
XM_006717890.3:c.4396C>A	XP_006717953.1:p.Leu1466Met
XM_011539849.3:c.5320C>A	XP_011538151.1:p.Leu1774Met
XM_011539850.3:c.4165C>A	XP_011538152.1:p.Leu1389Met
XM_017016310.2:c.5320C>A	XP_016871799.1:p.Leu1774Met
XM_017016311.2:c.5320C>A	XP_016871800.1:p.Leu1774Met
XM_017016312.2:c.4306C>A	XP_016871801.1:p.Leu1436Met
NM_001288989.2:c.5230C>A	NP_001275918.1:p.Leu1744Met
NM_016341.4:c.5278C>A MANE Select	NP_057425.3:p.Leu1760Met