Canonical Allele Identifier: CA377643085

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94304583C>A , CM000672.2:g.94304583C>A	GRCh38
NC_000010.10:g.96064340C>A , CM000672.1:g.96064340C>A	GRCh37
NC_000010.9:g.96054330C>A	NCBI36
NG_015799.1:g.315595C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016341.4:c.5560C>A MANE Select	NP_057425.3:p.Gln1854Lys
ENST00000371380.8:c.5560C>A MANE Select	ENSP00000360431.2:p.Gln1854Lys
NM_001165979.2:c.4636C>A	NP_001159451.1:p.Gln1546Lys
NM_001288989.1:c.5512C>A	NP_001275918.1:p.Gln1838Lys
NM_001288989.2:c.5512C>A	NP_001275918.1:p.Gln1838Lys
NM_016341.3:c.5560C>A	NP_057425.3:p.Gln1854Lys
ENST00000260766.7:c.5560C>A	ENSP00000260766.3:p.Gln1854Lys
ENST00000371375.1:c.4636C>A	ENSP00000360426.1:p.Gln1546Lys
ENST00000371375.2:c.4636C>A	ENSP00000360426.1:p.Gln1546Lys
ENST00000371380.7:c.5560C>A	ENSP00000360431.2:p.Gln1854Lys
ENST00000371385.7:c.4636C>A	ENSP00000360438.3:p.Gln1546Lys
ENST00000371385.8:c.4534C>A	ENSP00000360438.4:p.Gln1512Lys
ENST00000674738.1:c.4115C>A
ENST00000674827.1:c.3676C>A	ENSP00000502523.1:p.Gln1226Lys
ENST00000675218.1:c.4636C>A	ENSP00000501910.1:p.Gln1546Lys
ENST00000675487.1:c.*1493C>A	ENSP00000502340.1:n.*1493C>A
ENST00000675718.1:c.4829C>A
ENST00000685253.1:c.*2103C>A	ENSP00000509405.1:n.*2103C>A
ENST00000685889.1:n.2295C>A
ENST00000686807.1:n.979C>A
ENST00000686954.1:c.*844C>A	ENSP00000508416.1:n.*844C>A
ENST00000688810.1:c.4588C>A	ENSP00000509140.1:p.Gln1530Lys
ENST00000689233.1:n.9768C>A
ENST00000690340.1:n.3233C>A
ENST00000692286.1:c.5428C>A	ENSP00000509490.1:p.Gln1810Lys
ENST00000692396.1:c.5512C>A	ENSP00000508605.1:p.Gln1838Lys
XM_006717885.2:c.5602C>A	XP_006717948.1:p.Gln1868Lys
XM_006717885.4:c.5602C>A	XP_006717948.1:p.Gln1868Lys
XM_006717886.2:c.5602C>A	XP_006717949.1:p.Gln1868Lys
XM_006717888.2:c.5599C>A	XP_006717951.1:p.Gln1867Lys
XM_006717888.4:c.5599C>A	XP_006717951.1:p.Gln1867Lys
XM_006717889.2:c.5554C>A	XP_006717952.1:p.Gln1852Lys
XM_006717889.4:c.5554C>A	XP_006717952.1:p.Gln1852Lys
XM_006717890.1:c.4678C>A	XP_006717953.1:p.Gln1560Lys
XM_006717890.3:c.4678C>A	XP_006717953.1:p.Gln1560Lys
XM_011539849.1:c.5602C>A	XP_011538151.1:p.Gln1868Lys
XM_011539849.3:c.5602C>A	XP_011538151.1:p.Gln1868Lys
XM_011539850.1:c.4447C>A	XP_011538152.1:p.Gln1483Lys
XM_011539850.3:c.4447C>A	XP_011538152.1:p.Gln1483Lys
XM_017016310.2:c.5602C>A	XP_016871799.1:p.Gln1868Lys
XM_017016311.2:c.5602C>A	XP_016871800.1:p.Gln1868Lys
XM_017016312.2:c.4588C>A	XP_016871801.1:p.Gln1530Lys