Canonical Allele Identifier: CA377640972

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96053393A>T (hg19) ; chr10:g.94293636A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293636A>T , CM000672.2:g.94293636A>T	GRCh38
NC_000010.10:g.96053393A>T , CM000672.1:g.96053393A>T	GRCh37
NC_000010.9:g.96043383A>T	NCBI36
NG_015799.1:g.304648A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4240A>T	ENSP00000360426.1:p.Lys1414Ter
ENST00000685253.1:c.*1707A>T	ENSP00000509405.1:n.*1707A>T
ENST00000685889.1:n.1899A>T
ENST00000686807.1:n.583A>T
ENST00000686954.1:c.*448A>T	ENSP00000508416.1:n.*448A>T
ENST00000688810.1:c.4192A>T	ENSP00000509140.1:p.Lys1398Ter
ENST00000689233.1:n.9372A>T
ENST00000690340.1:n.2837A>T
ENST00000692286.1:c.5036-4743A>T	ENSP00000509490.1:n.5036-4743A>T
ENST00000692396.1:c.5116A>T	ENSP00000508605.1:p.Lys1706Ter
ENST00000371380.8:c.5164A>T MANE Select	ENSP00000360431.2:p.Lys1722Ter
ENST00000371385.8:c.4138A>T	ENSP00000360438.4:p.Lys1380Ter
ENST00000674738.1:c.3719A>T
ENST00000674827.1:c.3280A>T	ENSP00000502523.1:p.Lys1094Ter
ENST00000675218.1:c.4240A>T	ENSP00000501910.1:p.Lys1414Ter
ENST00000675487.1:c.*1097A>T	ENSP00000502340.1:n.*1097A>T
ENST00000675718.1:c.4433A>T
ENST00000676102.1:c.4009A>T	ENSP00000502811.1:p.Lys1337Ter
ENST00000260766.7:c.5164A>T	ENSP00000260766.3:p.Lys1722Ter
ENST00000371375.1:c.4240A>T	ENSP00000360426.1:p.Lys1414Ter
ENST00000371380.7:c.5164A>T	ENSP00000360431.2:p.Lys1722Ter
ENST00000371385.7:c.4240A>T	ENSP00000360438.3:p.Lys1414Ter
NM_001165979.2:c.4240A>T	NP_001159451.1:p.Lys1414Ter
NM_001288989.1:c.5116A>T	NP_001275918.1:p.Lys1706Ter
NM_016341.3:c.5164A>T	NP_057425.3:p.Lys1722Ter
XM_006717885.2:c.5206A>T	XP_006717948.1:p.Lys1736Ter
XM_006717886.2:c.5206A>T	XP_006717949.1:p.Lys1736Ter
XM_006717888.2:c.5203A>T	XP_006717951.1:p.Lys1735Ter
XM_006717889.2:c.5158A>T	XP_006717952.1:p.Lys1720Ter
XM_006717890.1:c.4282A>T	XP_006717953.1:p.Lys1428Ter
XM_011539849.1:c.5206A>T	XP_011538151.1:p.Lys1736Ter
XM_011539850.1:c.4051A>T	XP_011538152.1:p.Lys1351Ter
XM_006717885.4:c.5206A>T	XP_006717948.1:p.Lys1736Ter
XM_006717888.4:c.5203A>T	XP_006717951.1:p.Lys1735Ter
XM_006717889.4:c.5158A>T	XP_006717952.1:p.Lys1720Ter
XM_006717890.3:c.4282A>T	XP_006717953.1:p.Lys1428Ter
XM_011539849.3:c.5206A>T	XP_011538151.1:p.Lys1736Ter
XM_011539850.3:c.4051A>T	XP_011538152.1:p.Lys1351Ter
XM_017016310.2:c.5206A>T	XP_016871799.1:p.Lys1736Ter
XM_017016311.2:c.5206A>T	XP_016871800.1:p.Lys1736Ter
XM_017016312.2:c.4192A>T	XP_016871801.1:p.Lys1398Ter
NM_001288989.2:c.5116A>T	NP_001275918.1:p.Lys1706Ter
NM_016341.4:c.5164A>T MANE Select	NP_057425.3:p.Lys1722Ter