Canonical Allele Identifier: CA377642042

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96058319T>A (hg19) ; chr10:g.94298562T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298562T>A , CM000672.2:g.94298562T>A	GRCh38
NC_000010.10:g.96058319T>A , CM000672.1:g.96058319T>A	GRCh37
NC_000010.9:g.96048309T>A	NCBI36
NG_015799.1:g.309574T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4427T>A	ENSP00000360426.1:p.Leu1476Gln
ENST00000685253.1:c.*1894T>A	ENSP00000509405.1:n.*1894T>A
ENST00000685889.1:n.2086T>A
ENST00000686807.1:n.770T>A
ENST00000686954.1:c.*635T>A	ENSP00000508416.1:n.*635T>A
ENST00000688810.1:c.4379T>A	ENSP00000509140.1:p.Leu1460Gln
ENST00000689233.1:n.9559T>A
ENST00000690340.1:n.3024T>A
ENST00000692286.1:c.5219T>A	ENSP00000509490.1:p.Leu1740Gln
ENST00000692396.1:c.5303T>A	ENSP00000508605.1:p.Leu1768Gln
ENST00000371380.8:c.5351T>A MANE Select	ENSP00000360431.2:p.Leu1784Gln
ENST00000371385.8:c.4325T>A	ENSP00000360438.4:p.Leu1442Gln
ENST00000674738.1:c.3906T>A
ENST00000674827.1:c.3467T>A	ENSP00000502523.1:p.Leu1156Gln
ENST00000675218.1:c.4427T>A	ENSP00000501910.1:p.Leu1476Gln
ENST00000675487.1:c.*1284T>A	ENSP00000502340.1:n.*1284T>A
ENST00000675718.1:c.4620T>A
ENST00000260766.7:c.5351T>A	ENSP00000260766.3:p.Leu1784Gln
ENST00000371375.1:c.4427T>A	ENSP00000360426.1:p.Leu1476Gln
ENST00000371380.7:c.5351T>A	ENSP00000360431.2:p.Leu1784Gln
ENST00000371385.7:c.4427T>A	ENSP00000360438.3:p.Leu1476Gln
NM_001165979.2:c.4427T>A	NP_001159451.1:p.Leu1476Gln
NM_001288989.1:c.5303T>A	NP_001275918.1:p.Leu1768Gln
NM_016341.3:c.5351T>A	NP_057425.3:p.Leu1784Gln
XM_006717885.2:c.5393T>A	XP_006717948.1:p.Leu1798Gln
XM_006717886.2:c.5393T>A	XP_006717949.1:p.Leu1798Gln
XM_006717888.2:c.5390T>A	XP_006717951.1:p.Leu1797Gln
XM_006717889.2:c.5345T>A	XP_006717952.1:p.Leu1782Gln
XM_006717890.1:c.4469T>A	XP_006717953.1:p.Leu1490Gln
XM_011539849.1:c.5393T>A	XP_011538151.1:p.Leu1798Gln
XM_011539850.1:c.4238T>A	XP_011538152.1:p.Leu1413Gln
XM_006717885.4:c.5393T>A	XP_006717948.1:p.Leu1798Gln
XM_006717888.4:c.5390T>A	XP_006717951.1:p.Leu1797Gln
XM_006717889.4:c.5345T>A	XP_006717952.1:p.Leu1782Gln
XM_006717890.3:c.4469T>A	XP_006717953.1:p.Leu1490Gln
XM_011539849.3:c.5393T>A	XP_011538151.1:p.Leu1798Gln
XM_011539850.3:c.4238T>A	XP_011538152.1:p.Leu1413Gln
XM_017016310.2:c.5393T>A	XP_016871799.1:p.Leu1798Gln
XM_017016311.2:c.5393T>A	XP_016871800.1:p.Leu1798Gln
XM_017016312.2:c.4379T>A	XP_016871801.1:p.Leu1460Gln
NM_001288989.2:c.5303T>A	NP_001275918.1:p.Leu1768Gln
NM_016341.4:c.5351T>A MANE Select	NP_057425.3:p.Leu1784Gln