Canonical Allele Identifier: CA377641996

Gene: PLCE1

Linked Data

• ClinVar Variation Id: 2007165
• ClinVar RCV Id: RCV002842118
• gnomAD v4: 10-94298540-A-G
• MyVariant Identifiers: chr10:g.96058297A>G (hg19) ; chr10:g.94298540A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298540A>G , CM000672.2:g.94298540A>G	GRCh38
NC_000010.10:g.96058297A>G , CM000672.1:g.96058297A>G	GRCh37
NC_000010.9:g.96048287A>G	NCBI36
NG_015799.1:g.309552A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4405A>G	ENSP00000360426.1:p.Thr1469Ala
ENST00000685253.1:c.*1872A>G	ENSP00000509405.1:n.*1872A>G
ENST00000685889.1:n.2064A>G
ENST00000686807.1:n.748A>G
ENST00000686954.1:c.*613A>G	ENSP00000508416.1:n.*613A>G
ENST00000688810.1:c.4357A>G	ENSP00000509140.1:p.Thr1453Ala
ENST00000689233.1:n.9537A>G
ENST00000690340.1:n.3002A>G
ENST00000692286.1:c.5197A>G	ENSP00000509490.1:p.Thr1733Ala
ENST00000692396.1:c.5281A>G	ENSP00000508605.1:p.Thr1761Ala
ENST00000371380.8:c.5329A>G MANE Select	ENSP00000360431.2:p.Thr1777Ala
ENST00000371385.8:c.4303A>G	ENSP00000360438.4:p.Thr1435Ala
ENST00000674738.1:c.3884A>G
ENST00000674827.1:c.3445A>G	ENSP00000502523.1:p.Thr1149Ala
ENST00000675218.1:c.4405A>G	ENSP00000501910.1:p.Thr1469Ala
ENST00000675487.1:c.*1262A>G	ENSP00000502340.1:n.*1262A>G
ENST00000675718.1:c.4598A>G
ENST00000260766.7:c.5329A>G	ENSP00000260766.3:p.Thr1777Ala
ENST00000371375.1:c.4405A>G	ENSP00000360426.1:p.Thr1469Ala
ENST00000371380.7:c.5329A>G	ENSP00000360431.2:p.Thr1777Ala
ENST00000371385.7:c.4405A>G	ENSP00000360438.3:p.Thr1469Ala
NM_001165979.2:c.4405A>G	NP_001159451.1:p.Thr1469Ala
NM_001288989.1:c.5281A>G	NP_001275918.1:p.Thr1761Ala
NM_016341.3:c.5329A>G	NP_057425.3:p.Thr1777Ala
XM_006717885.2:c.5371A>G	XP_006717948.1:p.Thr1791Ala
XM_006717886.2:c.5371A>G	XP_006717949.1:p.Thr1791Ala
XM_006717888.2:c.5368A>G	XP_006717951.1:p.Thr1790Ala
XM_006717889.2:c.5323A>G	XP_006717952.1:p.Thr1775Ala
XM_006717890.1:c.4447A>G	XP_006717953.1:p.Thr1483Ala
XM_011539849.1:c.5371A>G	XP_011538151.1:p.Thr1791Ala
XM_011539850.1:c.4216A>G	XP_011538152.1:p.Thr1406Ala
XM_006717885.4:c.5371A>G	XP_006717948.1:p.Thr1791Ala
XM_006717888.4:c.5368A>G	XP_006717951.1:p.Thr1790Ala
XM_006717889.4:c.5323A>G	XP_006717952.1:p.Thr1775Ala
XM_006717890.3:c.4447A>G	XP_006717953.1:p.Thr1483Ala
XM_011539849.3:c.5371A>G	XP_011538151.1:p.Thr1791Ala
XM_011539850.3:c.4216A>G	XP_011538152.1:p.Thr1406Ala
XM_017016310.2:c.5371A>G	XP_016871799.1:p.Thr1791Ala
XM_017016311.2:c.5371A>G	XP_016871800.1:p.Thr1791Ala
XM_017016312.2:c.4357A>G	XP_016871801.1:p.Thr1453Ala
NM_001288989.2:c.5281A>G	NP_001275918.1:p.Thr1761Ala
NM_016341.4:c.5329A>G MANE Select	NP_057425.3:p.Thr1777Ala