Canonical Allele Identifier: CA377640876

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94293613-C-T
• MyVariant Identifiers: chr10:g.96053370C>T (hg19) ; chr10:g.94293613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293613C>T , CM000672.2:g.94293613C>T	GRCh38
NC_000010.10:g.96053370C>T , CM000672.1:g.96053370C>T	GRCh37
NC_000010.9:g.96043360C>T	NCBI36
NG_015799.1:g.304625C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4217C>T	ENSP00000360426.1:p.Ala1406Val
ENST00000685253.1:c.*1684C>T	ENSP00000509405.1:n.*1684C>T
ENST00000685889.1:n.1876C>T
ENST00000686807.1:n.560C>T
ENST00000686954.1:c.*425C>T	ENSP00000508416.1:n.*425C>T
ENST00000688810.1:c.4169C>T	ENSP00000509140.1:p.Ala1390Val
ENST00000689233.1:n.9349C>T
ENST00000690340.1:n.2814C>T
ENST00000692286.1:c.5036-4766C>T	ENSP00000509490.1:n.5036-4766C>T
ENST00000692396.1:c.5093C>T	ENSP00000508605.1:p.Ala1698Val
ENST00000371380.8:c.5141C>T MANE Select	ENSP00000360431.2:p.Ala1714Val
ENST00000371385.8:c.4115C>T	ENSP00000360438.4:p.Ala1372Val
ENST00000674738.1:c.3696C>T
ENST00000674827.1:c.3257C>T	ENSP00000502523.1:p.Ala1086Val
ENST00000675218.1:c.4217C>T	ENSP00000501910.1:p.Ala1406Val
ENST00000675487.1:c.*1074C>T	ENSP00000502340.1:n.*1074C>T
ENST00000675718.1:c.4410C>T
ENST00000676102.1:c.3986C>T	ENSP00000502811.1:p.Ala1329Val
ENST00000260766.7:c.5141C>T	ENSP00000260766.3:p.Ala1714Val
ENST00000371375.1:c.4217C>T	ENSP00000360426.1:p.Ala1406Val
ENST00000371380.7:c.5141C>T	ENSP00000360431.2:p.Ala1714Val
ENST00000371385.7:c.4217C>T	ENSP00000360438.3:p.Ala1406Val
NM_001165979.2:c.4217C>T	NP_001159451.1:p.Ala1406Val
NM_001288989.1:c.5093C>T	NP_001275918.1:p.Ala1698Val
NM_016341.3:c.5141C>T	NP_057425.3:p.Ala1714Val
XM_006717885.2:c.5183C>T	XP_006717948.1:p.Ala1728Val
XM_006717886.2:c.5183C>T	XP_006717949.1:p.Ala1728Val
XM_006717888.2:c.5180C>T	XP_006717951.1:p.Ala1727Val
XM_006717889.2:c.5135C>T	XP_006717952.1:p.Ala1712Val
XM_006717890.1:c.4259C>T	XP_006717953.1:p.Ala1420Val
XM_011539849.1:c.5183C>T	XP_011538151.1:p.Ala1728Val
XM_011539850.1:c.4028C>T	XP_011538152.1:p.Ala1343Val
XM_006717885.4:c.5183C>T	XP_006717948.1:p.Ala1728Val
XM_006717888.4:c.5180C>T	XP_006717951.1:p.Ala1727Val
XM_006717889.4:c.5135C>T	XP_006717952.1:p.Ala1712Val
XM_006717890.3:c.4259C>T	XP_006717953.1:p.Ala1420Val
XM_011539849.3:c.5183C>T	XP_011538151.1:p.Ala1728Val
XM_011539850.3:c.4028C>T	XP_011538152.1:p.Ala1343Val
XM_017016310.2:c.5183C>T	XP_016871799.1:p.Ala1728Val
XM_017016311.2:c.5183C>T	XP_016871800.1:p.Ala1728Val
XM_017016312.2:c.4169C>T	XP_016871801.1:p.Ala1390Val
NM_001288989.2:c.5093C>T	NP_001275918.1:p.Ala1698Val
NM_016341.4:c.5141C>T MANE Select	NP_057425.3:p.Ala1714Val