Canonical Allele Identifier: CA377642048

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96058322T>C (hg19) ; chr10:g.94298565T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4430T>C	ENSP00000360426.1:p.Leu1477Pro
ENST00000685253.1:c.*1897T>C	ENSP00000509405.1:n.*1897T>C
ENST00000685889.1:n.2089T>C
ENST00000686807.1:n.773T>C
ENST00000686954.1:c.*638T>C	ENSP00000508416.1:n.*638T>C
ENST00000688810.1:c.4382T>C	ENSP00000509140.1:p.Leu1461Pro
ENST00000689233.1:n.9562T>C
ENST00000690340.1:n.3027T>C
ENST00000692286.1:c.5222T>C	ENSP00000509490.1:p.Leu1741Pro
ENST00000692396.1:c.5306T>C	ENSP00000508605.1:p.Leu1769Pro
ENST00000371380.8:c.5354T>C MANE Select	ENSP00000360431.2:p.Leu1785Pro
ENST00000371385.8:c.4328T>C	ENSP00000360438.4:p.Leu1443Pro
ENST00000674738.1:c.3909T>C
ENST00000674827.1:c.3470T>C	ENSP00000502523.1:p.Leu1157Pro
ENST00000675218.1:c.4430T>C	ENSP00000501910.1:p.Leu1477Pro
ENST00000675487.1:c.*1287T>C	ENSP00000502340.1:n.*1287T>C
ENST00000675718.1:c.4623T>C
ENST00000260766.7:c.5354T>C	ENSP00000260766.3:p.Leu1785Pro
ENST00000371375.1:c.4430T>C	ENSP00000360426.1:p.Leu1477Pro
ENST00000371380.7:c.5354T>C	ENSP00000360431.2:p.Leu1785Pro
ENST00000371385.7:c.4430T>C	ENSP00000360438.3:p.Leu1477Pro
NM_001165979.2:c.4430T>C	NP_001159451.1:p.Leu1477Pro
NM_001288989.1:c.5306T>C	NP_001275918.1:p.Leu1769Pro
NM_016341.3:c.5354T>C	NP_057425.3:p.Leu1785Pro
XM_006717885.2:c.5396T>C	XP_006717948.1:p.Leu1799Pro
XM_006717886.2:c.5396T>C	XP_006717949.1:p.Leu1799Pro
XM_006717888.2:c.5393T>C	XP_006717951.1:p.Leu1798Pro
XM_006717889.2:c.5348T>C	XP_006717952.1:p.Leu1783Pro
XM_006717890.1:c.4472T>C	XP_006717953.1:p.Leu1491Pro
XM_011539849.1:c.5396T>C	XP_011538151.1:p.Leu1799Pro
XM_011539850.1:c.4241T>C	XP_011538152.1:p.Leu1414Pro
XM_006717885.4:c.5396T>C	XP_006717948.1:p.Leu1799Pro
XM_006717888.4:c.5393T>C	XP_006717951.1:p.Leu1798Pro
XM_006717889.4:c.5348T>C	XP_006717952.1:p.Leu1783Pro
XM_006717890.3:c.4472T>C	XP_006717953.1:p.Leu1491Pro
XM_011539849.3:c.5396T>C	XP_011538151.1:p.Leu1799Pro
XM_011539850.3:c.4241T>C	XP_011538152.1:p.Leu1414Pro
XM_017016310.2:c.5396T>C	XP_016871799.1:p.Leu1799Pro
XM_017016311.2:c.5396T>C	XP_016871800.1:p.Leu1799Pro
XM_017016312.2:c.4382T>C	XP_016871801.1:p.Leu1461Pro
NM_001288989.2:c.5306T>C	NP_001275918.1:p.Leu1769Pro
NM_016341.4:c.5354T>C MANE Select	NP_057425.3:p.Leu1785Pro