Canonical Allele Identifier: CA377640683

Gene: PLCE1

Linked Data

• COSMIC: COSM1970515 ; COSM1970516 ; COSM1970517 ; COSM4631476
• MyVariant Identifiers: chr10:g.96053329T>G (hg19) ; chr10:g.94293572T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293572T>G , CM000672.2:g.94293572T>G	GRCh38
NC_000010.10:g.96053329T>G , CM000672.1:g.96053329T>G	GRCh37
NC_000010.9:g.96043319T>G	NCBI36
NG_015799.1:g.304584T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4176T>G	ENSP00000360426.1:p.Ile1392Met
ENST00000685253.1:c.*1643T>G	ENSP00000509405.1:n.*1643T>G
ENST00000685889.1:n.1835T>G
ENST00000686807.1:n.519T>G
ENST00000686954.1:c.*384T>G	ENSP00000508416.1:n.*384T>G
ENST00000688810.1:c.4128T>G	ENSP00000509140.1:p.Ile1376Met
ENST00000689233.1:n.9308T>G
ENST00000690340.1:n.2773T>G
ENST00000692286.1:c.5036-4807T>G	ENSP00000509490.1:n.5036-4807T>G
ENST00000692396.1:c.5052T>G	ENSP00000508605.1:p.Ile1684Met
ENST00000371380.8:c.5100T>G MANE Select	ENSP00000360431.2:p.Ile1700Met
ENST00000371385.8:c.4074T>G	ENSP00000360438.4:p.Ile1358Met
ENST00000674738.1:c.3655T>G
ENST00000674827.1:c.3216T>G	ENSP00000502523.1:p.Ile1072Met
ENST00000675218.1:c.4176T>G	ENSP00000501910.1:p.Ile1392Met
ENST00000675487.1:c.*1033T>G	ENSP00000502340.1:n.*1033T>G
ENST00000675718.1:c.4369T>G
ENST00000676102.1:c.3945T>G	ENSP00000502811.1:p.Ile1315Met
ENST00000260766.7:c.5100T>G	ENSP00000260766.3:p.Ile1700Met
ENST00000371375.1:c.4176T>G	ENSP00000360426.1:p.Ile1392Met
ENST00000371380.7:c.5100T>G	ENSP00000360431.2:p.Ile1700Met
ENST00000371385.7:c.4176T>G	ENSP00000360438.3:p.Ile1392Met
NM_001165979.2:c.4176T>G	NP_001159451.1:p.Ile1392Met
NM_001288989.1:c.5052T>G	NP_001275918.1:p.Ile1684Met
NM_016341.3:c.5100T>G	NP_057425.3:p.Ile1700Met
XM_006717885.2:c.5142T>G	XP_006717948.1:p.Ile1714Met
XM_006717886.2:c.5142T>G	XP_006717949.1:p.Ile1714Met
XM_006717888.2:c.5139T>G	XP_006717951.1:p.Ile1713Met
XM_006717889.2:c.5094T>G	XP_006717952.1:p.Ile1698Met
XM_006717890.1:c.4218T>G	XP_006717953.1:p.Ile1406Met
XM_011539849.1:c.5142T>G	XP_011538151.1:p.Ile1714Met
XM_011539850.1:c.3987T>G	XP_011538152.1:p.Ile1329Met
XM_006717885.4:c.5142T>G	XP_006717948.1:p.Ile1714Met
XM_006717888.4:c.5139T>G	XP_006717951.1:p.Ile1713Met
XM_006717889.4:c.5094T>G	XP_006717952.1:p.Ile1698Met
XM_006717890.3:c.4218T>G	XP_006717953.1:p.Ile1406Met
XM_011539849.3:c.5142T>G	XP_011538151.1:p.Ile1714Met
XM_011539850.3:c.3987T>G	XP_011538152.1:p.Ile1329Met
XM_017016310.2:c.5142T>G	XP_016871799.1:p.Ile1714Met
XM_017016311.2:c.5142T>G	XP_016871800.1:p.Ile1714Met
XM_017016312.2:c.4128T>G	XP_016871801.1:p.Ile1376Met
NM_001288989.2:c.5052T>G	NP_001275918.1:p.Ile1684Met
NM_016341.4:c.5100T>G MANE Select	NP_057425.3:p.Ile1700Met