Canonical Allele Identifier: CA377640673

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94293570-A-C
• MyVariant Identifiers: chr10:g.96053327A>C (hg19) ; chr10:g.94293570A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293570A>C , CM000672.2:g.94293570A>C	GRCh38
NC_000010.10:g.96053327A>C , CM000672.1:g.96053327A>C	GRCh37
NC_000010.9:g.96043317A>C	NCBI36
NG_015799.1:g.304582A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4174A>C	ENSP00000360426.1:p.Ile1392Leu
ENST00000685253.1:c.*1641A>C	ENSP00000509405.1:n.*1641A>C
ENST00000685889.1:n.1833A>C
ENST00000686807.1:n.517A>C
ENST00000686954.1:c.*382A>C	ENSP00000508416.1:n.*382A>C
ENST00000688810.1:c.4126A>C	ENSP00000509140.1:p.Ile1376Leu
ENST00000689233.1:n.9306A>C
ENST00000690340.1:n.2771A>C
ENST00000692286.1:c.5036-4809A>C	ENSP00000509490.1:n.5036-4809A>C
ENST00000692396.1:c.5050A>C	ENSP00000508605.1:p.Ile1684Leu
ENST00000371380.8:c.5098A>C MANE Select	ENSP00000360431.2:p.Ile1700Leu
ENST00000371385.8:c.4072A>C	ENSP00000360438.4:p.Ile1358Leu
ENST00000674738.1:c.3653A>C
ENST00000674827.1:c.3214A>C	ENSP00000502523.1:p.Ile1072Leu
ENST00000675218.1:c.4174A>C	ENSP00000501910.1:p.Ile1392Leu
ENST00000675487.1:c.*1031A>C	ENSP00000502340.1:n.*1031A>C
ENST00000675718.1:c.4367A>C
ENST00000676102.1:c.3943A>C	ENSP00000502811.1:p.Ile1315Leu
ENST00000260766.7:c.5098A>C	ENSP00000260766.3:p.Ile1700Leu
ENST00000371375.1:c.4174A>C	ENSP00000360426.1:p.Ile1392Leu
ENST00000371380.7:c.5098A>C	ENSP00000360431.2:p.Ile1700Leu
ENST00000371385.7:c.4174A>C	ENSP00000360438.3:p.Ile1392Leu
NM_001165979.2:c.4174A>C	NP_001159451.1:p.Ile1392Leu
NM_001288989.1:c.5050A>C	NP_001275918.1:p.Ile1684Leu
NM_016341.3:c.5098A>C	NP_057425.3:p.Ile1700Leu
XM_006717885.2:c.5140A>C	XP_006717948.1:p.Ile1714Leu
XM_006717886.2:c.5140A>C	XP_006717949.1:p.Ile1714Leu
XM_006717888.2:c.5137A>C	XP_006717951.1:p.Ile1713Leu
XM_006717889.2:c.5092A>C	XP_006717952.1:p.Ile1698Leu
XM_006717890.1:c.4216A>C	XP_006717953.1:p.Ile1406Leu
XM_011539849.1:c.5140A>C	XP_011538151.1:p.Ile1714Leu
XM_011539850.1:c.3985A>C	XP_011538152.1:p.Ile1329Leu
XM_006717885.4:c.5140A>C	XP_006717948.1:p.Ile1714Leu
XM_006717888.4:c.5137A>C	XP_006717951.1:p.Ile1713Leu
XM_006717889.4:c.5092A>C	XP_006717952.1:p.Ile1698Leu
XM_006717890.3:c.4216A>C	XP_006717953.1:p.Ile1406Leu
XM_011539849.3:c.5140A>C	XP_011538151.1:p.Ile1714Leu
XM_011539850.3:c.3985A>C	XP_011538152.1:p.Ile1329Leu
XM_017016310.2:c.5140A>C	XP_016871799.1:p.Ile1714Leu
XM_017016311.2:c.5140A>C	XP_016871800.1:p.Ile1714Leu
XM_017016312.2:c.4126A>C	XP_016871801.1:p.Ile1376Leu
NM_001288989.2:c.5050A>C	NP_001275918.1:p.Ile1684Leu
NM_016341.4:c.5098A>C MANE Select	NP_057425.3:p.Ile1700Leu