Canonical Allele Identifier: CA5613405

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94306473C>T , CM000672.2:g.94306473C>T	GRCh38
NC_000010.10:g.96066230C>T , CM000672.1:g.96066230C>T	GRCh37
NC_000010.9:g.96056220C>T	NCBI36
NG_015799.1:g.317485C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4745C>T	ENSP00000360426.1:p.Pro1582Leu
ENST00000685253.1:c.*2212C>T	ENSP00000509405.1:n.*2212C>T
ENST00000685889.1:n.2404C>T
ENST00000686807.1:n.1088C>T
ENST00000686954.1:c.*953C>T	ENSP00000508416.1:n.*953C>T
ENST00000688810.1:c.4697C>T	ENSP00000509140.1:p.Pro1566Leu
ENST00000689233.1:n.9877C>T
ENST00000690340.1:n.3342C>T
ENST00000692286.1:c.5537C>T	ENSP00000509490.1:p.Pro1846Leu
ENST00000692396.1:c.5621C>T	ENSP00000508605.1:p.Pro1874Leu
ENST00000371380.8:c.5669C>T MANE Select	ENSP00000360431.2:p.Pro1890Leu
ENST00000371385.8:c.4643C>T	ENSP00000360438.4:p.Pro1548Leu
ENST00000674738.1:c.4224C>T
ENST00000674827.1:c.3785C>T	ENSP00000502523.1:p.Pro1262Leu
ENST00000675218.1:c.4745C>T	ENSP00000501910.1:p.Pro1582Leu
ENST00000675487.1:c.*1602C>T	ENSP00000502340.1:n.*1602C>T
ENST00000675718.1:c.4938C>T
ENST00000260766.7:c.5669C>T	ENSP00000260766.3:p.Pro1890Leu
ENST00000371375.1:c.4745C>T	ENSP00000360426.1:p.Pro1582Leu
ENST00000371380.7:c.5669C>T	ENSP00000360431.2:p.Pro1890Leu
ENST00000371385.7:c.4745C>T	ENSP00000360438.3:p.Pro1582Leu
NM_001165979.2:c.4745C>T	NP_001159451.1:p.Pro1582Leu
NM_001288989.1:c.5621C>T	NP_001275918.1:p.Pro1874Leu
NM_016341.3:c.5669C>T	NP_057425.3:p.Pro1890Leu
XM_006717885.2:c.5711C>T	XP_006717948.1:p.Pro1904Leu
XM_006717886.2:c.5711C>T	XP_006717949.1:p.Pro1904Leu
XM_006717888.2:c.5708C>T	XP_006717951.1:p.Pro1903Leu
XM_006717889.2:c.5663C>T	XP_006717952.1:p.Pro1888Leu
XM_006717890.1:c.4787C>T	XP_006717953.1:p.Pro1596Leu
XM_011539849.1:c.5711C>T	XP_011538151.1:p.Pro1904Leu
XM_011539850.1:c.4556C>T	XP_011538152.1:p.Pro1519Leu
XM_006717885.4:c.5711C>T	XP_006717948.1:p.Pro1904Leu
XM_006717888.4:c.5708C>T	XP_006717951.1:p.Pro1903Leu
XM_006717889.4:c.5663C>T	XP_006717952.1:p.Pro1888Leu
XM_006717890.3:c.4787C>T	XP_006717953.1:p.Pro1596Leu
XM_011539849.3:c.5711C>T	XP_011538151.1:p.Pro1904Leu
XM_011539850.3:c.4556C>T	XP_011538152.1:p.Pro1519Leu
XM_017016310.2:c.5711C>T	XP_016871799.1:p.Pro1904Leu
XM_017016311.2:c.5711C>T	XP_016871800.1:p.Pro1904Leu
XM_017016312.2:c.4697C>T	XP_016871801.1:p.Pro1566Leu
NM_001288989.2:c.5621C>T	NP_001275918.1:p.Pro1874Leu
NM_016341.4:c.5669C>T MANE Select	NP_057425.3:p.Pro1890Leu