Canonical Allele Identifier: CA377641840

Gene: PLCE1

Linked Data

• dbSNP Id: rs2052920754
• COSMIC: COSM1220937 ; COSM1220938
• MyVariant Identifiers: chr10:g.96058226A>G (hg19) ; chr10:g.94298469A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298469A>G , CM000672.2:g.94298469A>G	GRCh38
NC_000010.10:g.96058226A>G , CM000672.1:g.96058226A>G	GRCh37
NC_000010.9:g.96048216A>G	NCBI36
NG_015799.1:g.309481A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4334A>G	ENSP00000360426.1:p.Lys1445Arg
ENST00000685253.1:c.*1801A>G	ENSP00000509405.1:n.*1801A>G
ENST00000685889.1:n.1993A>G
ENST00000686807.1:n.677A>G
ENST00000686954.1:c.*542A>G	ENSP00000508416.1:n.*542A>G
ENST00000688810.1:c.4286A>G	ENSP00000509140.1:p.Lys1429Arg
ENST00000689233.1:n.9466A>G
ENST00000690340.1:n.2931A>G
ENST00000692286.1:c.5126A>G	ENSP00000509490.1:p.Lys1709Arg
ENST00000692396.1:c.5210A>G	ENSP00000508605.1:p.Lys1737Arg
ENST00000371380.8:c.5258A>G MANE Select	ENSP00000360431.2:p.Lys1753Arg
ENST00000371385.8:c.4232A>G	ENSP00000360438.4:p.Lys1411Arg
ENST00000674738.1:c.3813A>G
ENST00000674827.1:c.3374A>G	ENSP00000502523.1:p.Lys1125Arg
ENST00000675218.1:c.4334A>G	ENSP00000501910.1:p.Lys1445Arg
ENST00000675487.1:c.*1191A>G	ENSP00000502340.1:n.*1191A>G
ENST00000675718.1:c.4527A>G
ENST00000676102.1:c.4103A>G	ENSP00000502811.1:p.Lys1368Arg
ENST00000260766.7:c.5258A>G	ENSP00000260766.3:p.Lys1753Arg
ENST00000371375.1:c.4334A>G	ENSP00000360426.1:p.Lys1445Arg
ENST00000371380.7:c.5258A>G	ENSP00000360431.2:p.Lys1753Arg
ENST00000371385.7:c.4334A>G	ENSP00000360438.3:p.Lys1445Arg
NM_001165979.2:c.4334A>G	NP_001159451.1:p.Lys1445Arg
NM_001288989.1:c.5210A>G	NP_001275918.1:p.Lys1737Arg
NM_016341.3:c.5258A>G	NP_057425.3:p.Lys1753Arg
XM_006717885.2:c.5300A>G	XP_006717948.1:p.Lys1767Arg
XM_006717886.2:c.5300A>G	XP_006717949.1:p.Lys1767Arg
XM_006717888.2:c.5297A>G	XP_006717951.1:p.Lys1766Arg
XM_006717889.2:c.5252A>G	XP_006717952.1:p.Lys1751Arg
XM_006717890.1:c.4376A>G	XP_006717953.1:p.Lys1459Arg
XM_011539849.1:c.5300A>G	XP_011538151.1:p.Lys1767Arg
XM_011539850.1:c.4145A>G	XP_011538152.1:p.Lys1382Arg
XM_006717885.4:c.5300A>G	XP_006717948.1:p.Lys1767Arg
XM_006717888.4:c.5297A>G	XP_006717951.1:p.Lys1766Arg
XM_006717889.4:c.5252A>G	XP_006717952.1:p.Lys1751Arg
XM_006717890.3:c.4376A>G	XP_006717953.1:p.Lys1459Arg
XM_011539849.3:c.5300A>G	XP_011538151.1:p.Lys1767Arg
XM_011539850.3:c.4145A>G	XP_011538152.1:p.Lys1382Arg
XM_017016310.2:c.5300A>G	XP_016871799.1:p.Lys1767Arg
XM_017016311.2:c.5300A>G	XP_016871800.1:p.Lys1767Arg
XM_017016312.2:c.4286A>G	XP_016871801.1:p.Lys1429Arg
NM_001288989.2:c.5210A>G	NP_001275918.1:p.Lys1737Arg
NM_016341.4:c.5258A>G MANE Select	NP_057425.3:p.Lys1753Arg