Canonical Allele Identifier: CA5613287

Gene: PLCE1

Linked Data

• ClinVar Variation Id: 1588501
• ClinVar RCV Id: RCV002096149
• dbSNP Id: rs201633028
• ExAC: 10:96053340 A / G
• gnomAD v2: 10-96053340-A-G
• gnomAD v3: 10-94293583-A-G
• gnomAD v4: 10-94293583-A-G
• MyVariant Identifiers: chr10:g.96053340A>G (hg19) ; chr10:g.94293583A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293583A>G , CM000672.2:g.94293583A>G	GRCh38
NC_000010.10:g.96053340A>G , CM000672.1:g.96053340A>G	GRCh37
NC_000010.9:g.96043330A>G	NCBI36
NG_015799.1:g.304595A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4187A>G	ENSP00000360426.1:p.Asn1396Ser
ENST00000685253.1:c.*1654A>G	ENSP00000509405.1:n.*1654A>G
ENST00000685889.1:n.1846A>G
ENST00000686807.1:n.530A>G
ENST00000686954.1:c.*395A>G	ENSP00000508416.1:n.*395A>G
ENST00000688810.1:c.4139A>G	ENSP00000509140.1:p.Asn1380Ser
ENST00000689233.1:n.9319A>G
ENST00000690340.1:n.2784A>G
ENST00000692286.1:c.5036-4796A>G	ENSP00000509490.1:n.5036-4796A>G
ENST00000692396.1:c.5063A>G	ENSP00000508605.1:p.Asn1688Ser
ENST00000371380.8:c.5111A>G MANE Select	ENSP00000360431.2:p.Asn1704Ser
ENST00000371385.8:c.4085A>G	ENSP00000360438.4:p.Asn1362Ser
ENST00000674738.1:c.3666A>G
ENST00000674827.1:c.3227A>G	ENSP00000502523.1:p.Asn1076Ser
ENST00000675218.1:c.4187A>G	ENSP00000501910.1:p.Asn1396Ser
ENST00000675487.1:c.*1044A>G	ENSP00000502340.1:n.*1044A>G
ENST00000675718.1:c.4380A>G
ENST00000676102.1:c.3956A>G	ENSP00000502811.1:p.Asn1319Ser
ENST00000260766.7:c.5111A>G	ENSP00000260766.3:p.Asn1704Ser
ENST00000371375.1:c.4187A>G	ENSP00000360426.1:p.Asn1396Ser
ENST00000371380.7:c.5111A>G	ENSP00000360431.2:p.Asn1704Ser
ENST00000371385.7:c.4187A>G	ENSP00000360438.3:p.Asn1396Ser
NM_001165979.2:c.4187A>G	NP_001159451.1:p.Asn1396Ser
NM_001288989.1:c.5063A>G	NP_001275918.1:p.Asn1688Ser
NM_016341.3:c.5111A>G	NP_057425.3:p.Asn1704Ser
XM_006717885.2:c.5153A>G	XP_006717948.1:p.Asn1718Ser
XM_006717886.2:c.5153A>G	XP_006717949.1:p.Asn1718Ser
XM_006717888.2:c.5150A>G	XP_006717951.1:p.Asn1717Ser
XM_006717889.2:c.5105A>G	XP_006717952.1:p.Asn1702Ser
XM_006717890.1:c.4229A>G	XP_006717953.1:p.Asn1410Ser
XM_011539849.1:c.5153A>G	XP_011538151.1:p.Asn1718Ser
XM_011539850.1:c.3998A>G	XP_011538152.1:p.Asn1333Ser
XM_006717885.4:c.5153A>G	XP_006717948.1:p.Asn1718Ser
XM_006717888.4:c.5150A>G	XP_006717951.1:p.Asn1717Ser
XM_006717889.4:c.5105A>G	XP_006717952.1:p.Asn1702Ser
XM_006717890.3:c.4229A>G	XP_006717953.1:p.Asn1410Ser
XM_011539849.3:c.5153A>G	XP_011538151.1:p.Asn1718Ser
XM_011539850.3:c.3998A>G	XP_011538152.1:p.Asn1333Ser
XM_017016310.2:c.5153A>G	XP_016871799.1:p.Asn1718Ser
XM_017016311.2:c.5153A>G	XP_016871800.1:p.Asn1718Ser
XM_017016312.2:c.4139A>G	XP_016871801.1:p.Asn1380Ser
NM_001288989.2:c.5063A>G	NP_001275918.1:p.Asn1688Ser
NM_016341.4:c.5111A>G MANE Select	NP_057425.3:p.Asn1704Ser