Canonical Allele Identifier: CA377641851

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96058230T>G (hg19) ; chr10:g.94298473T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298473T>G , CM000672.2:g.94298473T>G	GRCh38
NC_000010.10:g.96058230T>G , CM000672.1:g.96058230T>G	GRCh37
NC_000010.9:g.96048220T>G	NCBI36
NG_015799.1:g.309485T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4338T>G	ENSP00000360426.1:p.Cys1446Trp
ENST00000685253.1:c.*1805T>G	ENSP00000509405.1:n.*1805T>G
ENST00000685889.1:n.1997T>G
ENST00000686807.1:n.681T>G
ENST00000686954.1:c.*546T>G	ENSP00000508416.1:n.*546T>G
ENST00000688810.1:c.4290T>G	ENSP00000509140.1:p.Cys1430Trp
ENST00000689233.1:n.9470T>G
ENST00000690340.1:n.2935T>G
ENST00000692286.1:c.5130T>G	ENSP00000509490.1:p.Cys1710Trp
ENST00000692396.1:c.5214T>G	ENSP00000508605.1:p.Cys1738Trp
ENST00000371380.8:c.5262T>G MANE Select	ENSP00000360431.2:p.Cys1754Trp
ENST00000371385.8:c.4236T>G	ENSP00000360438.4:p.Cys1412Trp
ENST00000674738.1:c.3817T>G
ENST00000674827.1:c.3378T>G	ENSP00000502523.1:p.Cys1126Trp
ENST00000675218.1:c.4338T>G	ENSP00000501910.1:p.Cys1446Trp
ENST00000675487.1:c.*1195T>G	ENSP00000502340.1:n.*1195T>G
ENST00000675718.1:c.4531T>G
ENST00000676102.1:c.4107T>G	ENSP00000502811.1:p.Cys1369Trp
ENST00000260766.7:c.5262T>G	ENSP00000260766.3:p.Cys1754Trp
ENST00000371375.1:c.4338T>G	ENSP00000360426.1:p.Cys1446Trp
ENST00000371380.7:c.5262T>G	ENSP00000360431.2:p.Cys1754Trp
ENST00000371385.7:c.4338T>G	ENSP00000360438.3:p.Cys1446Trp
NM_001165979.2:c.4338T>G	NP_001159451.1:p.Cys1446Trp
NM_001288989.1:c.5214T>G	NP_001275918.1:p.Cys1738Trp
NM_016341.3:c.5262T>G	NP_057425.3:p.Cys1754Trp
XM_006717885.2:c.5304T>G	XP_006717948.1:p.Cys1768Trp
XM_006717886.2:c.5304T>G	XP_006717949.1:p.Cys1768Trp
XM_006717888.2:c.5301T>G	XP_006717951.1:p.Cys1767Trp
XM_006717889.2:c.5256T>G	XP_006717952.1:p.Cys1752Trp
XM_006717890.1:c.4380T>G	XP_006717953.1:p.Cys1460Trp
XM_011539849.1:c.5304T>G	XP_011538151.1:p.Cys1768Trp
XM_011539850.1:c.4149T>G	XP_011538152.1:p.Cys1383Trp
XM_006717885.4:c.5304T>G	XP_006717948.1:p.Cys1768Trp
XM_006717888.4:c.5301T>G	XP_006717951.1:p.Cys1767Trp
XM_006717889.4:c.5256T>G	XP_006717952.1:p.Cys1752Trp
XM_006717890.3:c.4380T>G	XP_006717953.1:p.Cys1460Trp
XM_011539849.3:c.5304T>G	XP_011538151.1:p.Cys1768Trp
XM_011539850.3:c.4149T>G	XP_011538152.1:p.Cys1383Trp
XM_017016310.2:c.5304T>G	XP_016871799.1:p.Cys1768Trp
XM_017016311.2:c.5304T>G	XP_016871800.1:p.Cys1768Trp
XM_017016312.2:c.4290T>G	XP_016871801.1:p.Cys1430Trp
NM_001288989.2:c.5214T>G	NP_001275918.1:p.Cys1738Trp
NM_016341.4:c.5262T>G MANE Select	NP_057425.3:p.Cys1754Trp