Canonical Allele Identifier: CA377641818

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96058216A>T (hg19) ; chr10:g.94298459A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298459A>T , CM000672.2:g.94298459A>T	GRCh38
NC_000010.10:g.96058216A>T , CM000672.1:g.96058216A>T	GRCh37
NC_000010.9:g.96048206A>T	NCBI36
NG_015799.1:g.309471A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4324A>T	ENSP00000360426.1:p.Arg1442Ter
ENST00000685253.1:c.*1791A>T	ENSP00000509405.1:n.*1791A>T
ENST00000685889.1:n.1983A>T
ENST00000686807.1:n.667A>T
ENST00000686954.1:c.*532A>T	ENSP00000508416.1:n.*532A>T
ENST00000688810.1:c.4276A>T	ENSP00000509140.1:p.Arg1426Ter
ENST00000689233.1:n.9456A>T
ENST00000690340.1:n.2921A>T
ENST00000692286.1:c.5116A>T	ENSP00000509490.1:p.Arg1706Ter
ENST00000692396.1:c.5200A>T	ENSP00000508605.1:p.Arg1734Ter
ENST00000371380.8:c.5248A>T MANE Select	ENSP00000360431.2:p.Arg1750Ter
ENST00000371385.8:c.4222A>T	ENSP00000360438.4:p.Arg1408Ter
ENST00000674738.1:c.3803A>T
ENST00000674827.1:c.3364A>T	ENSP00000502523.1:p.Arg1122Ter
ENST00000675218.1:c.4324A>T	ENSP00000501910.1:p.Arg1442Ter
ENST00000675487.1:c.*1181A>T	ENSP00000502340.1:n.*1181A>T
ENST00000675718.1:c.4517A>T
ENST00000676102.1:c.4093A>T	ENSP00000502811.1:p.Arg1365Ter
ENST00000260766.7:c.5248A>T	ENSP00000260766.3:p.Arg1750Ter
ENST00000371375.1:c.4324A>T	ENSP00000360426.1:p.Arg1442Ter
ENST00000371380.7:c.5248A>T	ENSP00000360431.2:p.Arg1750Ter
ENST00000371385.7:c.4324A>T	ENSP00000360438.3:p.Arg1442Ter
NM_001165979.2:c.4324A>T	NP_001159451.1:p.Arg1442Ter
NM_001288989.1:c.5200A>T	NP_001275918.1:p.Arg1734Ter
NM_016341.3:c.5248A>T	NP_057425.3:p.Arg1750Ter
XM_006717885.2:c.5290A>T	XP_006717948.1:p.Arg1764Ter
XM_006717886.2:c.5290A>T	XP_006717949.1:p.Arg1764Ter
XM_006717888.2:c.5287A>T	XP_006717951.1:p.Arg1763Ter
XM_006717889.2:c.5242A>T	XP_006717952.1:p.Arg1748Ter
XM_006717890.1:c.4366A>T	XP_006717953.1:p.Arg1456Ter
XM_011539849.1:c.5290A>T	XP_011538151.1:p.Arg1764Ter
XM_011539850.1:c.4135A>T	XP_011538152.1:p.Arg1379Ter
XM_006717885.4:c.5290A>T	XP_006717948.1:p.Arg1764Ter
XM_006717888.4:c.5287A>T	XP_006717951.1:p.Arg1763Ter
XM_006717889.4:c.5242A>T	XP_006717952.1:p.Arg1748Ter
XM_006717890.3:c.4366A>T	XP_006717953.1:p.Arg1456Ter
XM_011539849.3:c.5290A>T	XP_011538151.1:p.Arg1764Ter
XM_011539850.3:c.4135A>T	XP_011538152.1:p.Arg1379Ter
XM_017016310.2:c.5290A>T	XP_016871799.1:p.Arg1764Ter
XM_017016311.2:c.5290A>T	XP_016871800.1:p.Arg1764Ter
XM_017016312.2:c.4276A>T	XP_016871801.1:p.Arg1426Ter
NM_001288989.2:c.5200A>T	NP_001275918.1:p.Arg1734Ter
NM_016341.4:c.5248A>T MANE Select	NP_057425.3:p.Arg1750Ter