Canonical Allele Identifier: CA377642242

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96058393A>C (hg19) ; chr10:g.94298636A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298636A>C , CM000672.2:g.94298636A>C	GRCh38
NC_000010.10:g.96058393A>C , CM000672.1:g.96058393A>C	GRCh37
NC_000010.9:g.96048383A>C	NCBI36
NG_015799.1:g.309648A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4501A>C	ENSP00000360426.1:p.Ile1501Leu
ENST00000685253.1:c.*1968A>C	ENSP00000509405.1:n.*1968A>C
ENST00000685889.1:n.2160A>C
ENST00000686807.1:n.844A>C
ENST00000686954.1:c.*709A>C	ENSP00000508416.1:n.*709A>C
ENST00000688810.1:c.4453A>C	ENSP00000509140.1:p.Ile1485Leu
ENST00000689233.1:n.9633A>C
ENST00000690340.1:n.3098A>C
ENST00000692286.1:c.5293A>C	ENSP00000509490.1:p.Ile1765Leu
ENST00000692396.1:c.5377A>C	ENSP00000508605.1:p.Ile1793Leu
ENST00000371380.8:c.5425A>C MANE Select	ENSP00000360431.2:p.Ile1809Leu
ENST00000371385.8:c.4399A>C	ENSP00000360438.4:p.Ile1467Leu
ENST00000674738.1:c.3980A>C
ENST00000674827.1:c.3541A>C	ENSP00000502523.1:p.Ile1181Leu
ENST00000675218.1:c.4501A>C	ENSP00000501910.1:p.Ile1501Leu
ENST00000675487.1:c.*1358A>C	ENSP00000502340.1:n.*1358A>C
ENST00000675718.1:c.4694A>C
ENST00000260766.7:c.5425A>C	ENSP00000260766.3:p.Ile1809Leu
ENST00000371375.1:c.4501A>C	ENSP00000360426.1:p.Ile1501Leu
ENST00000371380.7:c.5425A>C	ENSP00000360431.2:p.Ile1809Leu
ENST00000371385.7:c.4501A>C	ENSP00000360438.3:p.Ile1501Leu
NM_001165979.2:c.4501A>C	NP_001159451.1:p.Ile1501Leu
NM_001288989.1:c.5377A>C	NP_001275918.1:p.Ile1793Leu
NM_016341.3:c.5425A>C	NP_057425.3:p.Ile1809Leu
XM_006717885.2:c.5467A>C	XP_006717948.1:p.Ile1823Leu
XM_006717886.2:c.5467A>C	XP_006717949.1:p.Ile1823Leu
XM_006717888.2:c.5464A>C	XP_006717951.1:p.Ile1822Leu
XM_006717889.2:c.5419A>C	XP_006717952.1:p.Ile1807Leu
XM_006717890.1:c.4543A>C	XP_006717953.1:p.Ile1515Leu
XM_011539849.1:c.5467A>C	XP_011538151.1:p.Ile1823Leu
XM_011539850.1:c.4312A>C	XP_011538152.1:p.Ile1438Leu
XM_006717885.4:c.5467A>C	XP_006717948.1:p.Ile1823Leu
XM_006717888.4:c.5464A>C	XP_006717951.1:p.Ile1822Leu
XM_006717889.4:c.5419A>C	XP_006717952.1:p.Ile1807Leu
XM_006717890.3:c.4543A>C	XP_006717953.1:p.Ile1515Leu
XM_011539849.3:c.5467A>C	XP_011538151.1:p.Ile1823Leu
XM_011539850.3:c.4312A>C	XP_011538152.1:p.Ile1438Leu
XM_017016310.2:c.5467A>C	XP_016871799.1:p.Ile1823Leu
XM_017016311.2:c.5467A>C	XP_016871800.1:p.Ile1823Leu
XM_017016312.2:c.4453A>C	XP_016871801.1:p.Ile1485Leu
NM_001288989.2:c.5377A>C	NP_001275918.1:p.Ile1793Leu
NM_016341.4:c.5425A>C MANE Select	NP_057425.3:p.Ile1809Leu