Canonical Allele Identifier: CA377642049

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298565T>G , CM000672.2:g.94298565T>G	GRCh38
NC_000010.10:g.96058322T>G , CM000672.1:g.96058322T>G	GRCh37
NC_000010.9:g.96048312T>G	NCBI36
NG_015799.1:g.309577T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_016341.4:c.5354T>G MANE Select	NP_057425.3:p.Leu1785Arg
ENST00000371380.8:c.5354T>G MANE Select	ENSP00000360431.2:p.Leu1785Arg
NM_001165979.2:c.4430T>G	NP_001159451.1:p.Leu1477Arg
NM_001288989.1:c.5306T>G	NP_001275918.1:p.Leu1769Arg
NM_001288989.2:c.5306T>G	NP_001275918.1:p.Leu1769Arg
NM_016341.3:c.5354T>G	NP_057425.3:p.Leu1785Arg
ENST00000260766.7:c.5354T>G	ENSP00000260766.3:p.Leu1785Arg
ENST00000371375.1:c.4430T>G	ENSP00000360426.1:p.Leu1477Arg
ENST00000371375.2:c.4430T>G	ENSP00000360426.1:p.Leu1477Arg
ENST00000371380.7:c.5354T>G	ENSP00000360431.2:p.Leu1785Arg
ENST00000371385.7:c.4430T>G	ENSP00000360438.3:p.Leu1477Arg
ENST00000371385.8:c.4328T>G	ENSP00000360438.4:p.Leu1443Arg
ENST00000674738.1:c.3909T>G
ENST00000674827.1:c.3470T>G	ENSP00000502523.1:p.Leu1157Arg
ENST00000675218.1:c.4430T>G	ENSP00000501910.1:p.Leu1477Arg
ENST00000675487.1:c.*1287T>G	ENSP00000502340.1:n.*1287T>G
ENST00000675718.1:c.4623T>G
ENST00000685253.1:c.*1897T>G	ENSP00000509405.1:n.*1897T>G
ENST00000685889.1:n.2089T>G
ENST00000686807.1:n.773T>G
ENST00000686954.1:c.*638T>G	ENSP00000508416.1:n.*638T>G
ENST00000688810.1:c.4382T>G	ENSP00000509140.1:p.Leu1461Arg
ENST00000689233.1:n.9562T>G
ENST00000690340.1:n.3027T>G
ENST00000692286.1:c.5222T>G	ENSP00000509490.1:p.Leu1741Arg
ENST00000692396.1:c.5306T>G	ENSP00000508605.1:p.Leu1769Arg
XM_006717885.2:c.5396T>G	XP_006717948.1:p.Leu1799Arg
XM_006717885.4:c.5396T>G	XP_006717948.1:p.Leu1799Arg
XM_006717886.2:c.5396T>G	XP_006717949.1:p.Leu1799Arg
XM_006717888.2:c.5393T>G	XP_006717951.1:p.Leu1798Arg
XM_006717888.4:c.5393T>G	XP_006717951.1:p.Leu1798Arg
XM_006717889.2:c.5348T>G	XP_006717952.1:p.Leu1783Arg
XM_006717889.4:c.5348T>G	XP_006717952.1:p.Leu1783Arg
XM_006717890.1:c.4472T>G	XP_006717953.1:p.Leu1491Arg
XM_006717890.3:c.4472T>G	XP_006717953.1:p.Leu1491Arg
XM_011539849.1:c.5396T>G	XP_011538151.1:p.Leu1799Arg
XM_011539849.3:c.5396T>G	XP_011538151.1:p.Leu1799Arg
XM_011539850.1:c.4241T>G	XP_011538152.1:p.Leu1414Arg
XM_011539850.3:c.4241T>G	XP_011538152.1:p.Leu1414Arg
XM_017016310.2:c.5396T>G	XP_016871799.1:p.Leu1799Arg
XM_017016311.2:c.5396T>G	XP_016871800.1:p.Leu1799Arg
XM_017016312.2:c.4382T>G	XP_016871801.1:p.Leu1461Arg