Canonical Allele Identifier: CA4337189

Gene: AKAP9

Linked Data

• ClinVar Variation Id: 3225085
• ClinVar RCV Id: RCV004523735
• dbSNP Id: rs745520352
• ExAC: 7:91707145 G / A
• gnomAD v2: 7-91707145-G-A
• gnomAD v3: 7-92077831-G-A
• gnomAD v4: 7-92077831-G-A
• MyVariant Identifiers: chr7:g.91707145G>A (hg19) ; chr7:g.92077831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92077831G>A , CM000669.2:g.92077831G>A	GRCh38
NC_000007.13:g.91707145G>A , CM000669.1:g.91707145G>A	GRCh37
NC_000007.12:g.91545081G>A	NCBI36
NG_011623.1:g.141957G>A , LRG_331:g.141957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356239.8:c.6901G>A MANE Select	ENSP00000348573.3:p.Val2301Ile
ENST00000359028.7:c.6973G>A	ENSP00000351922.4:p.Val2325Ile
ENST00000394534.7:c.394G>A	ENSP00000378042.3:p.Val132Ile
ENST00000491695.2:c.1546G>A	ENSP00000494626.2:p.Val516Ile
ENST00000674381.2:c.*6630G>A	ENSP00000501536.2:n.*6630G>A
ENST00000679448.1:c.6877G>A	ENSP00000505889.1:p.Val2293Ile
ENST00000679457.1:c.6877G>A	ENSP00000505450.1:p.Val2293Ile
ENST00000679474.1:n.7099G>A
ENST00000679521.1:c.6847G>A	ENSP00000505456.1:p.Val2283Ile
ENST00000679554.1:c.*6686G>A	ENSP00000506415.1:n.*6686G>A
ENST00000679722.1:n.7123G>A
ENST00000679821.1:c.6643G>A	ENSP00000506040.1:p.Val2215Ile
ENST00000680047.1:n.7099G>A
ENST00000680072.1:c.6724G>A	ENSP00000506581.1:p.Val2242Ile
ENST00000680181.1:c.6808G>A	ENSP00000505548.1:p.Val2270Ile
ENST00000680365.1:c.394G>A	ENSP00000506019.1:p.Val132Ile
ENST00000680513.1:c.6760G>A	ENSP00000505284.1:p.Val2254Ile
ENST00000680534.1:c.6940G>A	ENSP00000506674.1:p.Val2314Ile
ENST00000680766.1:c.6877G>A	ENSP00000505204.1:p.Val2293Ile
ENST00000680952.1:c.6877G>A	ENSP00000506407.1:p.Val2293Ile
ENST00000681216.1:c.394G>A	ENSP00000505551.1:p.Val132Ile
ENST00000681412.1:c.6901G>A	ENSP00000506486.1:p.Val2301Ile
ENST00000681722.1:c.6877G>A	ENSP00000506566.1:p.Val2293Ile
ENST00000356239.7:c.6901G>A	ENSP00000348573.3:p.Val2301Ile
ENST00000358100.6:c.6760G>A	ENSP00000350813.3:p.Val2254Ile
ENST00000359028.6:c.6934G>A	ENSP00000351922.3:p.Val2312Ile
ENST00000394534.6:c.439G>A	ENSP00000378042.2:p.Val147Ile
NM_005751.4:c.6901G>A , LRG_331t1:c.6901G>A	NP_005742.4:p.Val2301Ile
NM_147185.2:c.6877G>A	NP_671714.1:p.Val2293Ile
XM_006715827.1:c.6760G>A	XP_006715890.1:p.Val2254Ile
XM_011515709.1:c.7048G>A	XP_011514011.1:p.Val2350Ile
XM_011515710.1:c.7072G>A	XP_011514012.1:p.Val2358Ile
XM_011515711.1:c.7012G>A	XP_011514013.1:p.Val2338Ile
XM_011515712.1:c.7009G>A	XP_011514014.1:p.Val2337Ile
XM_011515713.1:c.6994G>A	XP_011514015.1:p.Val2332Ile
XM_011515714.1:c.7033G>A	XP_011514016.1:p.Val2345Ile
XM_011515716.1:c.6952G>A	XP_011514018.1:p.Val2318Ile
XM_011515717.1:c.6907G>A	XP_011514019.1:p.Val2303Ile
XM_011515718.1:c.6937G>A	XP_011514020.1:p.Val2313Ile
XM_011515719.1:c.6913G>A	XP_011514021.1:p.Val2305Ile
XM_011515720.1:c.6796G>A	XP_011514022.1:p.Val2266Ile
XM_011515721.1:c.1561G>A	XP_011514023.1:p.Val521Ile
XM_011515722.1:c.1522G>A	XP_011514024.1:p.Val508Ile
XM_017011642.2:c.7036G>A	XP_016867131.1:p.Val2346Ile
XM_017011643.2:c.6997G>A	XP_016867132.1:p.Val2333Ile
XM_017011644.2:c.7036G>A	XP_016867133.1:p.Val2346Ile
XM_017011645.2:c.6982G>A	XP_016867134.1:p.Val2328Ile
XM_017011646.2:c.6997G>A	XP_016867135.1:p.Val2333Ile
XM_017011647.2:c.6943G>A	XP_016867136.1:p.Val2315Ile
XM_017011648.2:c.6940G>A	XP_016867137.1:p.Val2314Ile
XM_017011649.2:c.6973G>A	XP_016867138.1:p.Val2325Ile
XM_017011650.2:c.6901G>A	XP_016867139.1:p.Val2301Ile
XM_017011651.2:c.6895G>A	XP_016867140.1:p.Val2299Ile
XM_017011652.2:c.7036G>A	XP_016867141.1:p.Val2346Ile
XM_017011653.2:c.6808G>A	XP_016867142.1:p.Val2270Ile
XM_017011654.2:c.6760G>A	XP_016867143.1:p.Val2254Ile
XM_017011655.2:c.6664G>A	XP_016867144.1:p.Val2222Ile
XM_017011656.2:c.6664G>A	XP_016867145.1:p.Val2222Ile
XM_017011657.2:c.2701G>A	XP_016867146.1:p.Val901Ile
XM_017011658.2:c.1585G>A	XP_016867147.1:p.Val529Ile
XM_017011659.2:c.1546G>A	XP_016867148.1:p.Val516Ile
XM_017011660.2:c.1546G>A	XP_016867149.1:p.Val516Ile
XM_024446631.1:c.6799G>A	XP_024302399.1:p.Val2267Ile
NM_147185.3:c.6877G>A	NP_671714.1:p.Val2293Ile
NM_001379277.1:c.1546G>A	NP_001366206.1:p.Val516Ile
NM_005751.5:c.6901G>A MANE Select	NP_005742.4:p.Val2301Ile