Canonical Allele Identifier: CA8268724

Gene: INPP5K

Linked Data

• ClinVar Variation Id: 417780
• ClinVar RCV Id: RCV000477733
• dbSNP Id: rs750781027
• ExAC: 17:1417251 C / T
• gnomAD v2: 17-1417251-C-T
• gnomAD v3: 17-1513957-C-T
• gnomAD v4: 17-1513957-C-T
• MyVariant Identifiers: chr17:g.1417251C>T (hg19) ; chr17:g.1513957C>T (hg38)
• PubMed: PMID:28190459

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1513957C>T , CM000679.2:g.1513957C>T	GRCh38
NC_000017.10:g.1417251C>T , CM000679.1:g.1417251C>T	GRCh37
NC_000017.9:g.1364001C>T	NCBI36
NG_029891.1:g.7932G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000421807.7:c.67G>A MANE Select	ENSP00000413937.2:p.Val23Met
ENST00000320345.10:c.-162G>A	ENSP00000318476.6:n.-162G>A
ENST00000350761.9:c.44+2499G>A	ENSP00000254712.5:n.44+2499G>A
ENST00000406424.8:c.-162G>A	ENSP00000385177.4:n.-162G>A
ENST00000421807.6:c.67G>A	ENSP00000413937.2:p.Val23Met
ENST00000445774.2:c.67G>A	ENSP00000389334.2:p.Val23Met
ENST00000449479.5:c.-101G>A	ENSP00000413259.1:n.-101G>A
ENST00000477910.5:c.-162G>A	ENSP00000467376.1:n.-162G>A
ENST00000498390.5:c.-101G>A	ENSP00000466929.1:n.-101G>A
ENST00000571274.5:c.-162G>A	ENSP00000458413.1:n.-162G>A
ENST00000573790.5:c.67G>A	ENSP00000461846.1:p.Val23Met
ENST00000574561.1:c.44+2499G>A	ENSP00000461105.1:n.44+2499G>A
ENST00000574955.1:c.*70G>A	ENSP00000459029.1:n.*70G>A
ENST00000575172.5:c.67G>A	ENSP00000459758.1:p.Val23Met
ENST00000576646.7:c.23G>A
NM_001135642.1:c.-162G>A	NP_001129114.1:n.-162G>A
NM_016532.3:c.67G>A	NP_057616.2:p.Val23Met
NM_130766.2:c.-162G>A	NP_570122.1:n.-162G>A
XM_005256683.2:c.-155G>A	XP_005256740.1:n.-155G>A
XM_005256685.1:c.-101G>A	XP_005256742.1:n.-101G>A
XM_005256686.1:c.-101G>A	XP_005256743.1:n.-101G>A
XM_011523934.1:c.-162G>A	XP_011522236.1:n.-162G>A
XM_011523935.1:c.-162G>A	XP_011522237.1:n.-162G>A
XM_005256686.2:c.-101G>A	XP_005256743.1:n.-101G>A
XM_011523936.2:c.-342G>A	XP_011522238.1:n.-342G>A
XM_017024756.1:c.-155G>A	XP_016880245.1:n.-155G>A
XM_017024757.2:c.-101G>A	XP_016880246.1:n.-101G>A
XM_017024758.2:c.-349G>A	XP_016880247.1:n.-349G>A
XM_017024759.1:c.-240G>A	XP_016880248.1:n.-240G>A
XM_024450802.1:c.-155G>A	XP_024306570.1:n.-155G>A
NM_016532.4:c.67G>A MANE Select	NP_057616.2:p.Val23Met
NM_001135642.2:c.-162G>A	NP_001129114.1:n.-162G>A
NM_130766.3:c.-162G>A	NP_570122.1:n.-162G>A