Canonical Allele Identifier: CA377641848

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94298472-G-C
• MyVariant Identifiers: chr10:g.96058229G>C (hg19) ; chr10:g.94298472G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298472G>C , CM000672.2:g.94298472G>C	GRCh38
NC_000010.10:g.96058229G>C , CM000672.1:g.96058229G>C	GRCh37
NC_000010.9:g.96048219G>C	NCBI36
NG_015799.1:g.309484G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4337G>C	ENSP00000360426.1:p.Cys1446Ser
ENST00000685253.1:c.*1804G>C	ENSP00000509405.1:n.*1804G>C
ENST00000685889.1:n.1996G>C
ENST00000686807.1:n.680G>C
ENST00000686954.1:c.*545G>C	ENSP00000508416.1:n.*545G>C
ENST00000688810.1:c.4289G>C	ENSP00000509140.1:p.Cys1430Ser
ENST00000689233.1:n.9469G>C
ENST00000690340.1:n.2934G>C
ENST00000692286.1:c.5129G>C	ENSP00000509490.1:p.Cys1710Ser
ENST00000692396.1:c.5213G>C	ENSP00000508605.1:p.Cys1738Ser
ENST00000371380.8:c.5261G>C MANE Select	ENSP00000360431.2:p.Cys1754Ser
ENST00000371385.8:c.4235G>C	ENSP00000360438.4:p.Cys1412Ser
ENST00000674738.1:c.3816G>C
ENST00000674827.1:c.3377G>C	ENSP00000502523.1:p.Cys1126Ser
ENST00000675218.1:c.4337G>C	ENSP00000501910.1:p.Cys1446Ser
ENST00000675487.1:c.*1194G>C	ENSP00000502340.1:n.*1194G>C
ENST00000675718.1:c.4530G>C
ENST00000676102.1:c.4106G>C	ENSP00000502811.1:p.Cys1369Ser
ENST00000260766.7:c.5261G>C	ENSP00000260766.3:p.Cys1754Ser
ENST00000371375.1:c.4337G>C	ENSP00000360426.1:p.Cys1446Ser
ENST00000371380.7:c.5261G>C	ENSP00000360431.2:p.Cys1754Ser
ENST00000371385.7:c.4337G>C	ENSP00000360438.3:p.Cys1446Ser
NM_001165979.2:c.4337G>C	NP_001159451.1:p.Cys1446Ser
NM_001288989.1:c.5213G>C	NP_001275918.1:p.Cys1738Ser
NM_016341.3:c.5261G>C	NP_057425.3:p.Cys1754Ser
XM_006717885.2:c.5303G>C	XP_006717948.1:p.Cys1768Ser
XM_006717886.2:c.5303G>C	XP_006717949.1:p.Cys1768Ser
XM_006717888.2:c.5300G>C	XP_006717951.1:p.Cys1767Ser
XM_006717889.2:c.5255G>C	XP_006717952.1:p.Cys1752Ser
XM_006717890.1:c.4379G>C	XP_006717953.1:p.Cys1460Ser
XM_011539849.1:c.5303G>C	XP_011538151.1:p.Cys1768Ser
XM_011539850.1:c.4148G>C	XP_011538152.1:p.Cys1383Ser
XM_006717885.4:c.5303G>C	XP_006717948.1:p.Cys1768Ser
XM_006717888.4:c.5300G>C	XP_006717951.1:p.Cys1767Ser
XM_006717889.4:c.5255G>C	XP_006717952.1:p.Cys1752Ser
XM_006717890.3:c.4379G>C	XP_006717953.1:p.Cys1460Ser
XM_011539849.3:c.5303G>C	XP_011538151.1:p.Cys1768Ser
XM_011539850.3:c.4148G>C	XP_011538152.1:p.Cys1383Ser
XM_017016310.2:c.5303G>C	XP_016871799.1:p.Cys1768Ser
XM_017016311.2:c.5303G>C	XP_016871800.1:p.Cys1768Ser
XM_017016312.2:c.4289G>C	XP_016871801.1:p.Cys1430Ser
NM_001288989.2:c.5213G>C	NP_001275918.1:p.Cys1738Ser
NM_016341.4:c.5261G>C MANE Select	NP_057425.3:p.Cys1754Ser