Canonical Allele Identifier: CA377641938

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94298513-C-G
• MyVariant Identifiers: chr10:g.96058270C>G (hg19) ; chr10:g.94298513C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298513C>G , CM000672.2:g.94298513C>G	GRCh38
NC_000010.10:g.96058270C>G , CM000672.1:g.96058270C>G	GRCh37
NC_000010.9:g.96048260C>G	NCBI36
NG_015799.1:g.309525C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4378C>G	ENSP00000360426.1:p.Leu1460Val
ENST00000685253.1:c.*1845C>G	ENSP00000509405.1:n.*1845C>G
ENST00000685889.1:n.2037C>G
ENST00000686807.1:n.721C>G
ENST00000686954.1:c.*586C>G	ENSP00000508416.1:n.*586C>G
ENST00000688810.1:c.4330C>G	ENSP00000509140.1:p.Leu1444Val
ENST00000689233.1:n.9510C>G
ENST00000690340.1:n.2975C>G
ENST00000692286.1:c.5170C>G	ENSP00000509490.1:p.Leu1724Val
ENST00000692396.1:c.5254C>G	ENSP00000508605.1:p.Leu1752Val
ENST00000371380.8:c.5302C>G MANE Select	ENSP00000360431.2:p.Leu1768Val
ENST00000371385.8:c.4276C>G	ENSP00000360438.4:p.Leu1426Val
ENST00000674738.1:c.3857C>G
ENST00000674827.1:c.3418C>G	ENSP00000502523.1:p.Leu1140Val
ENST00000675218.1:c.4378C>G	ENSP00000501910.1:p.Leu1460Val
ENST00000675487.1:c.*1235C>G	ENSP00000502340.1:n.*1235C>G
ENST00000675718.1:c.4571C>G
ENST00000260766.7:c.5302C>G	ENSP00000260766.3:p.Leu1768Val
ENST00000371375.1:c.4378C>G	ENSP00000360426.1:p.Leu1460Val
ENST00000371380.7:c.5302C>G	ENSP00000360431.2:p.Leu1768Val
ENST00000371385.7:c.4378C>G	ENSP00000360438.3:p.Leu1460Val
NM_001165979.2:c.4378C>G	NP_001159451.1:p.Leu1460Val
NM_001288989.1:c.5254C>G	NP_001275918.1:p.Leu1752Val
NM_016341.3:c.5302C>G	NP_057425.3:p.Leu1768Val
XM_006717885.2:c.5344C>G	XP_006717948.1:p.Leu1782Val
XM_006717886.2:c.5344C>G	XP_006717949.1:p.Leu1782Val
XM_006717888.2:c.5341C>G	XP_006717951.1:p.Leu1781Val
XM_006717889.2:c.5296C>G	XP_006717952.1:p.Leu1766Val
XM_006717890.1:c.4420C>G	XP_006717953.1:p.Leu1474Val
XM_011539849.1:c.5344C>G	XP_011538151.1:p.Leu1782Val
XM_011539850.1:c.4189C>G	XP_011538152.1:p.Leu1397Val
XM_006717885.4:c.5344C>G	XP_006717948.1:p.Leu1782Val
XM_006717888.4:c.5341C>G	XP_006717951.1:p.Leu1781Val
XM_006717889.4:c.5296C>G	XP_006717952.1:p.Leu1766Val
XM_006717890.3:c.4420C>G	XP_006717953.1:p.Leu1474Val
XM_011539849.3:c.5344C>G	XP_011538151.1:p.Leu1782Val
XM_011539850.3:c.4189C>G	XP_011538152.1:p.Leu1397Val
XM_017016310.2:c.5344C>G	XP_016871799.1:p.Leu1782Val
XM_017016311.2:c.5344C>G	XP_016871800.1:p.Leu1782Val
XM_017016312.2:c.4330C>G	XP_016871801.1:p.Leu1444Val
NM_001288989.2:c.5254C>G	NP_001275918.1:p.Leu1752Val
NM_016341.4:c.5302C>G MANE Select	NP_057425.3:p.Leu1768Val