Canonical Allele Identifier: CA4337143
Community Standard Title: NM_005751.5(AKAP9):c.6676G>A (p.Val2226Ile)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92076918G>A , CM000669.2:g.92076918G>A GRCh38
NC_000007.13:g.91706232G>A , CM000669.1:g.91706232G>A GRCh37
NC_000007.12:g.91544168G>A NCBI36
NG_011623.1:g.141044G>A , LRG_331:g.141044G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.6676G>A MANE Select NP_005742.4:p.Val2226Ile
ENST00000356239.8:c.6676G>A MANE Select ENSP00000348573.3:p.Val2226Ile
NM_001379277.1:c.1321G>A NP_001366206.1:p.Val441Ile
NM_005751.4:c.6676G>A , LRG_331t1:c.6676G>A NP_005742.4:p.Val2226Ile
NM_147185.2:c.6652G>A NP_671714.1:p.Val2218Ile
NM_147185.3:c.6652G>A NP_671714.1:p.Val2218Ile
ENST00000356239.7:c.6676G>A ENSP00000348573.3:p.Val2226Ile
ENST00000358100.6:c.6535G>A ENSP00000350813.3:p.Val2179Ile
ENST00000359028.6:c.6709G>A ENSP00000351922.3:p.Val2237Ile
ENST00000359028.7:c.6748G>A ENSP00000351922.4:p.Val2250Ile
ENST00000394534.6:c.214G>A ENSP00000378042.2:p.Val72Ile
ENST00000394534.7:c.169G>A ENSP00000378042.3:p.Val57Ile
ENST00000491695.2:c.1321G>A ENSP00000494626.2:p.Val441Ile
ENST00000674381.2:c.*6405G>A ENSP00000501536.2:n.*6405G>A
ENST00000679448.1:c.6652G>A ENSP00000505889.1:p.Val2218Ile
ENST00000679457.1:c.6652G>A ENSP00000505450.1:p.Val2218Ile
ENST00000679474.1:n.6874G>A
ENST00000679521.1:c.6622G>A ENSP00000505456.1:p.Val2208Ile
ENST00000679554.1:c.*6461G>A ENSP00000506415.1:n.*6461G>A
ENST00000679722.1:n.6898G>A
ENST00000679821.1:c.6418G>A ENSP00000506040.1:p.Val2140Ile
ENST00000680047.1:n.6874G>A
ENST00000680072.1:c.6499G>A ENSP00000506581.1:p.Val2167Ile
ENST00000680181.1:c.6583G>A ENSP00000505548.1:p.Val2195Ile
ENST00000680365.1:c.169G>A ENSP00000506019.1:p.Val57Ile
ENST00000680513.1:c.6535G>A ENSP00000505284.1:p.Val2179Ile
ENST00000680534.1:c.6715G>A ENSP00000506674.1:p.Val2239Ile
ENST00000680766.1:c.6652G>A ENSP00000505204.1:p.Val2218Ile
ENST00000680952.1:c.6652G>A ENSP00000506407.1:p.Val2218Ile
ENST00000681216.1:c.169G>A ENSP00000505551.1:p.Val57Ile
ENST00000681412.1:c.6676G>A ENSP00000506486.1:p.Val2226Ile
ENST00000681722.1:c.6652G>A ENSP00000506566.1:p.Val2218Ile
XM_006715827.1:c.6535G>A XP_006715890.1:p.Val2179Ile
XM_011515709.1:c.6823G>A XP_011514011.1:p.Val2275Ile
XM_011515710.1:c.6847G>A XP_011514012.1:p.Val2283Ile
XM_011515711.1:c.6787G>A XP_011514013.1:p.Val2263Ile
XM_011515712.1:c.6784G>A XP_011514014.1:p.Val2262Ile
XM_011515713.1:c.6769G>A XP_011514015.1:p.Val2257Ile
XM_011515714.1:c.6808G>A XP_011514016.1:p.Val2270Ile
XM_011515716.1:c.6727G>A XP_011514018.1:p.Val2243Ile
XM_011515717.1:c.6682G>A XP_011514019.1:p.Val2228Ile
XM_011515718.1:c.6712G>A XP_011514020.1:p.Val2238Ile
XM_011515719.1:c.6688G>A XP_011514021.1:p.Val2230Ile
XM_011515720.1:c.6571G>A XP_011514022.1:p.Val2191Ile
XM_011515721.1:c.1336G>A XP_011514023.1:p.Val446Ile
XM_011515722.1:c.1297G>A XP_011514024.1:p.Val433Ile
XM_017011642.2:c.6811G>A XP_016867131.1:p.Val2271Ile
XM_017011643.2:c.6772G>A XP_016867132.1:p.Val2258Ile
XM_017011644.2:c.6811G>A XP_016867133.1:p.Val2271Ile
XM_017011645.2:c.6757G>A XP_016867134.1:p.Val2253Ile
XM_017011646.2:c.6772G>A XP_016867135.1:p.Val2258Ile
XM_017011647.2:c.6718G>A XP_016867136.1:p.Val2240Ile
XM_017011648.2:c.6715G>A XP_016867137.1:p.Val2239Ile
XM_017011649.2:c.6748G>A XP_016867138.1:p.Val2250Ile
XM_017011650.2:c.6676G>A XP_016867139.1:p.Val2226Ile
XM_017011651.2:c.6670G>A XP_016867140.1:p.Val2224Ile
XM_017011652.2:c.6811G>A XP_016867141.1:p.Val2271Ile
XM_017011653.2:c.6583G>A XP_016867142.1:p.Val2195Ile
XM_017011654.2:c.6535G>A XP_016867143.1:p.Val2179Ile
XM_017011655.2:c.6439G>A XP_016867144.1:p.Val2147Ile
XM_017011656.2:c.6439G>A XP_016867145.1:p.Val2147Ile
XM_017011657.2:c.2476G>A XP_016867146.1:p.Val826Ile
XM_017011658.2:c.1360G>A XP_016867147.1:p.Val454Ile
XM_017011659.2:c.1321G>A XP_016867148.1:p.Val441Ile
XM_017011660.2:c.1321G>A XP_016867149.1:p.Val441Ile
XM_024446631.1:c.6574G>A XP_024302399.1:p.Val2192Ile