Canonical Allele Identifier: CA470986481

Gene: PLCE1

Linked Data

• dbSNP Id: rs1266991873
• gnomAD v3: 10-94298476-T-C
• gnomAD v4: 10-94298476-T-C
• MyVariant Identifiers: chr10:g.96058233T>C (hg19) ; chr10:g.94298476T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298476T>C , CM000672.2:g.94298476T>C	GRCh38
NC_000010.10:g.96058233T>C , CM000672.1:g.96058233T>C	GRCh37
NC_000010.9:g.96048223T>C	NCBI36
NG_015799.1:g.309488T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4341T>C	ENSP00000360426.1:p.Tyr1447=
ENST00000685253.1:c.*1808T>C	ENSP00000509405.1:n.*1808T>C
ENST00000685889.1:n.2000T>C
ENST00000686807.1:n.684T>C
ENST00000686954.1:c.*549T>C	ENSP00000508416.1:n.*549T>C
ENST00000688810.1:c.4293T>C	ENSP00000509140.1:p.Tyr1431=
ENST00000689233.1:n.9473T>C
ENST00000690340.1:n.2938T>C
ENST00000692286.1:c.5133T>C	ENSP00000509490.1:p.Tyr1711=
ENST00000692396.1:c.5217T>C	ENSP00000508605.1:p.Tyr1739=
ENST00000371380.8:c.5265T>C MANE Select	ENSP00000360431.2:p.Tyr1755=
ENST00000371385.8:c.4239T>C	ENSP00000360438.4:p.Tyr1413=
ENST00000674738.1:c.3820T>C
ENST00000674827.1:c.3381T>C	ENSP00000502523.1:p.Tyr1127=
ENST00000675218.1:c.4341T>C	ENSP00000501910.1:p.Tyr1447=
ENST00000675487.1:c.*1198T>C	ENSP00000502340.1:n.*1198T>C
ENST00000675718.1:c.4534T>C
ENST00000676102.1:c.4110T>C	ENSP00000502811.1:p.Tyr1370=
ENST00000260766.7:c.5265T>C	ENSP00000260766.3:p.Tyr1755=
ENST00000371375.1:c.4341T>C	ENSP00000360426.1:p.Tyr1447=
ENST00000371380.7:c.5265T>C	ENSP00000360431.2:p.Tyr1755=
ENST00000371385.7:c.4341T>C	ENSP00000360438.3:p.Tyr1447=
NM_001165979.2:c.4341T>C	NP_001159451.1:p.Tyr1447=
NM_001288989.1:c.5217T>C	NP_001275918.1:p.Tyr1739=
NM_016341.3:c.5265T>C	NP_057425.3:p.Tyr1755=
XM_006717885.2:c.5307T>C	XP_006717948.1:p.Tyr1769=
XM_006717886.2:c.5307T>C	XP_006717949.1:p.Tyr1769=
XM_006717888.2:c.5304T>C	XP_006717951.1:p.Tyr1768=
XM_006717889.2:c.5259T>C	XP_006717952.1:p.Tyr1753=
XM_006717890.1:c.4383T>C	XP_006717953.1:p.Tyr1461=
XM_011539849.1:c.5307T>C	XP_011538151.1:p.Tyr1769=
XM_011539850.1:c.4152T>C	XP_011538152.1:p.Tyr1384=
XM_006717885.4:c.5307T>C	XP_006717948.1:p.Tyr1769=
XM_006717888.4:c.5304T>C	XP_006717951.1:p.Tyr1768=
XM_006717889.4:c.5259T>C	XP_006717952.1:p.Tyr1753=
XM_006717890.3:c.4383T>C	XP_006717953.1:p.Tyr1461=
XM_011539849.3:c.5307T>C	XP_011538151.1:p.Tyr1769=
XM_011539850.3:c.4152T>C	XP_011538152.1:p.Tyr1384=
XM_017016310.2:c.5307T>C	XP_016871799.1:p.Tyr1769=
XM_017016311.2:c.5307T>C	XP_016871800.1:p.Tyr1769=
XM_017016312.2:c.4293T>C	XP_016871801.1:p.Tyr1431=
NM_001288989.2:c.5217T>C	NP_001275918.1:p.Tyr1739=
NM_016341.4:c.5265T>C MANE Select	NP_057425.3:p.Tyr1755=