Canonical Allele Identifier: CA377641749

Gene: PLCE1

Linked Data

• dbSNP Id: rs1173624921
• gnomAD v2: 10-96058183-C-T
• gnomAD v4: 10-94298426-C-T
• MyVariant Identifiers: chr10:g.96058183C>T (hg19) ; chr10:g.94298426C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298426C>T , CM000672.2:g.94298426C>T	GRCh38
NC_000010.10:g.96058183C>T , CM000672.1:g.96058183C>T	GRCh37
NC_000010.9:g.96048173C>T	NCBI36
NG_015799.1:g.309438C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4291C>T	ENSP00000360426.1:p.Leu1431Phe
ENST00000685253.1:c.*1758C>T	ENSP00000509405.1:n.*1758C>T
ENST00000685889.1:n.1950C>T
ENST00000686807.1:n.634C>T
ENST00000686954.1:c.*499C>T	ENSP00000508416.1:n.*499C>T
ENST00000688810.1:c.4243C>T	ENSP00000509140.1:p.Leu1415Phe
ENST00000689233.1:n.9423C>T
ENST00000690340.1:n.2888C>T
ENST00000692286.1:c.5083C>T	ENSP00000509490.1:p.Leu1695Phe
ENST00000692396.1:c.5167C>T	ENSP00000508605.1:p.Leu1723Phe
ENST00000371380.8:c.5215C>T MANE Select	ENSP00000360431.2:p.Leu1739Phe
ENST00000371385.8:c.4189C>T	ENSP00000360438.4:p.Leu1397Phe
ENST00000674738.1:c.3770C>T
ENST00000674827.1:c.3331C>T	ENSP00000502523.1:p.Leu1111Phe
ENST00000675218.1:c.4291C>T	ENSP00000501910.1:p.Leu1431Phe
ENST00000675487.1:c.*1148C>T	ENSP00000502340.1:n.*1148C>T
ENST00000675718.1:c.4484C>T
ENST00000676102.1:c.4060C>T	ENSP00000502811.1:p.Leu1354Phe
ENST00000260766.7:c.5215C>T	ENSP00000260766.3:p.Leu1739Phe
ENST00000371375.1:c.4291C>T	ENSP00000360426.1:p.Leu1431Phe
ENST00000371380.7:c.5215C>T	ENSP00000360431.2:p.Leu1739Phe
ENST00000371385.7:c.4291C>T	ENSP00000360438.3:p.Leu1431Phe
NM_001165979.2:c.4291C>T	NP_001159451.1:p.Leu1431Phe
NM_001288989.1:c.5167C>T	NP_001275918.1:p.Leu1723Phe
NM_016341.3:c.5215C>T	NP_057425.3:p.Leu1739Phe
XM_006717885.2:c.5257C>T	XP_006717948.1:p.Leu1753Phe
XM_006717886.2:c.5257C>T	XP_006717949.1:p.Leu1753Phe
XM_006717888.2:c.5254C>T	XP_006717951.1:p.Leu1752Phe
XM_006717889.2:c.5209C>T	XP_006717952.1:p.Leu1737Phe
XM_006717890.1:c.4333C>T	XP_006717953.1:p.Leu1445Phe
XM_011539849.1:c.5257C>T	XP_011538151.1:p.Leu1753Phe
XM_011539850.1:c.4102C>T	XP_011538152.1:p.Leu1368Phe
XM_006717885.4:c.5257C>T	XP_006717948.1:p.Leu1753Phe
XM_006717888.4:c.5254C>T	XP_006717951.1:p.Leu1752Phe
XM_006717889.4:c.5209C>T	XP_006717952.1:p.Leu1737Phe
XM_006717890.3:c.4333C>T	XP_006717953.1:p.Leu1445Phe
XM_011539849.3:c.5257C>T	XP_011538151.1:p.Leu1753Phe
XM_011539850.3:c.4102C>T	XP_011538152.1:p.Leu1368Phe
XM_017016310.2:c.5257C>T	XP_016871799.1:p.Leu1753Phe
XM_017016311.2:c.5257C>T	XP_016871800.1:p.Leu1753Phe
XM_017016312.2:c.4243C>T	XP_016871801.1:p.Leu1415Phe
NM_001288989.2:c.5167C>T	NP_001275918.1:p.Leu1723Phe
NM_016341.4:c.5215C>T MANE Select	NP_057425.3:p.Leu1739Phe