Canonical Allele Identifier: CA145460

Gene: PIK3CD

Linked Data

• ClinVar Variation Id: 88675
• ClinVar RCV Id: RCV000076908 ; RCV000224521 ; RCV001027610
• dbSNP Id: rs397518423
• gnomAD v2: 1-9787030-G-A
• gnomAD v4: 1-9726972-G-A
• COSMIC: COSM1581454 ; COSM4243207
• MyVariant Identifiers: chr1:g.9787030G>A (hg19) ; chr1:g.9726972G>A (hg38)
• PubMed: PMID:16984281 ; PMID:24136356 ; PMID:24165795 ; PMID:24610295

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9726972G>A , CM000663.2:g.9726972G>A	GRCh38
NC_000001.10:g.9787030G>A , CM000663.1:g.9787030G>A	GRCh37
NC_000001.9:g.9709617G>A	NCBI36
NG_023434.1:g.80241G>A , LRG_191:g.80241G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000481137.2:c.*2315G>A	ENSP00000513886.1:n.*2315G>A
ENST00000698709.1:c.2965G>A	ENSP00000513887.1:p.Glu989Lys
ENST00000698710.1:c.3058G>A	ENSP00000513888.1:p.Glu1020Lys
ENST00000698712.1:c.3061G>A	ENSP00000513889.1:p.Glu1021Lys
ENST00000698713.1:c.3061G>A	ENSP00000513890.1:p.Glu1021Lys
ENST00000698714.1:c.2917G>A	ENSP00000513891.1:p.Glu973Lys
ENST00000698715.1:c.3058G>A	ENSP00000513892.1:p.Glu1020Lys
ENST00000698716.1:c.3049G>A	ENSP00000513893.1:p.Glu1017Lys
ENST00000698719.1:n.2222G>A
ENST00000377346.9:c.3061G>A MANE Select	ENSP00000366563.4:p.Glu1021Lys
ENST00000361110.6:c.3133G>A	ENSP00000354410.2:p.Glu1045Lys
ENST00000377346.8:c.3061G>A	ENSP00000366563.4:p.Glu1021Lys
ENST00000536656.5:c.3133G>A	ENSP00000446444.2:p.Glu1045Lys
ENST00000543390.2:c.3133G>A	ENSP00000443811.2:p.Glu1045Lys
ENST00000628140.2:c.3133G>A	ENSP00000486826.1:p.Glu1045Lys
NM_005026.3:c.3061G>A , LRG_191t1:c.3061G>A	NP_005017.3:p.Glu1021Lys
XM_005263473.1:c.3058G>A	XP_005263530.1:p.Glu1020Lys
XM_006710686.1:c.3061G>A	XP_006710749.1:p.Glu1021Lys
XM_006710687.1:c.3061G>A	XP_006710750.1:p.Glu1021Lys
XM_006710688.1:c.3061G>A	XP_006710751.1:p.Glu1021Lys
XM_006710689.1:c.3061G>A	XP_006710752.1:p.Glu1021Lys
XM_006710690.1:c.2974G>A	XP_006710753.1:p.Glu992Lys
XM_011541581.1:c.3061G>A	XP_011539883.1:p.Glu1021Lys
XM_011541582.1:c.2917G>A	XP_011539884.1:p.Glu973Lys
XM_011541583.1:c.2413G>A	XP_011539885.1:p.Glu805Lys
XR_946667.1:n.3146G>A
NM_001350234.1:c.3058G>A	NP_001337163.1:p.Glu1020Lys
NM_001350235.1:c.2974G>A	NP_001337164.1:p.Glu992Lys
NM_005026.4:c.3061G>A	NP_005017.3:p.Glu1021Lys
XM_006710687.2:c.3061G>A	XP_006710750.1:p.Glu1021Lys
XM_006710689.2:c.3061G>A	XP_006710752.1:p.Glu1021Lys
XM_017001476.1:c.3238G>A	XP_016856965.1:p.Glu1080Lys
XM_017001477.1:c.3238G>A	XP_016856966.1:p.Glu1080Lys
XM_017001478.1:c.3238G>A	XP_016856967.1:p.Glu1080Lys
XM_017001479.1:c.3238G>A	XP_016856968.1:p.Glu1080Lys
XM_017001480.1:c.3238G>A	XP_016856969.1:p.Glu1080Lys
XM_017001481.1:c.3238G>A	XP_016856970.1:p.Glu1080Lys
XM_017001482.2:c.3238G>A	XP_016856971.1:p.Glu1080Lys
XM_017001483.2:c.3151G>A	XP_016856972.1:p.Glu1051Lys
XM_024447661.1:c.3238G>A	XP_024303429.1:p.Glu1080Lys
XM_024447663.1:c.3058G>A	XP_024303431.1:p.Glu1020Lys
XM_024447664.1:c.2974G>A	XP_024303432.1:p.Glu992Lys
XR_002956806.1:n.3146G>A
NM_001350234.2:c.3058G>A	NP_001337163.1:p.Glu1020Lys
NM_005026.5:c.3061G>A MANE Select	NP_005017.3:p.Glu1021Lys