Canonical Allele Identifier: CA4337210
Community Standard Title: NM_005751.5(AKAP9):c.6970A>G (p.Ile2324Val)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92079103A>G , CM000669.2:g.92079103A>G GRCh38
NC_000007.13:g.91708417A>G , CM000669.1:g.91708417A>G GRCh37
NC_000007.12:g.91546353A>G NCBI36
NG_011623.1:g.143229A>G , LRG_331:g.143229A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.6970A>G MANE Select NP_005742.4:p.Ile2324Val
ENST00000356239.8:c.6970A>G MANE Select ENSP00000348573.3:p.Ile2324Val
NM_001379277.1:c.1615A>G NP_001366206.1:p.Ile539Val
NM_005751.4:c.6970A>G , LRG_331t1:c.6970A>G NP_005742.4:p.Ile2324Val
NM_147185.2:c.6946A>G NP_671714.1:p.Ile2316Val
NM_147185.3:c.6946A>G NP_671714.1:p.Ile2316Val
ENST00000356239.7:c.6970A>G ENSP00000348573.3:p.Ile2324Val
ENST00000358100.6:c.6829A>G ENSP00000350813.3:p.Ile2277Val
ENST00000359028.6:c.7003A>G ENSP00000351922.3:p.Ile2335Val
ENST00000359028.7:c.7042A>G ENSP00000351922.4:p.Ile2348Val
ENST00000394534.6:c.508A>G ENSP00000378042.2:p.Ile170Val
ENST00000394534.7:c.463A>G ENSP00000378042.3:p.Ile155Val
ENST00000491695.2:c.1615A>G ENSP00000494626.2:p.Ile539Val
ENST00000674381.2:c.*6699A>G ENSP00000501536.2:n.*6699A>G
ENST00000679448.1:c.6946A>G ENSP00000505889.1:p.Ile2316Val
ENST00000679457.1:c.6946A>G ENSP00000505450.1:p.Ile2316Val
ENST00000679474.1:n.7168A>G
ENST00000679521.1:c.6916A>G ENSP00000505456.1:p.Ile2306Val
ENST00000679554.1:c.*6755A>G ENSP00000506415.1:n.*6755A>G
ENST00000679722.1:n.7192A>G
ENST00000679821.1:c.6712A>G ENSP00000506040.1:p.Ile2238Val
ENST00000680047.1:n.7168A>G
ENST00000680072.1:c.6793A>G ENSP00000506581.1:p.Ile2265Val
ENST00000680181.1:c.6877A>G ENSP00000505548.1:p.Ile2293Val
ENST00000680365.1:c.463A>G ENSP00000506019.1:p.Ile155Val
ENST00000680513.1:c.6829A>G ENSP00000505284.1:p.Ile2277Val
ENST00000680534.1:c.7009A>G ENSP00000506674.1:p.Ile2337Val
ENST00000680766.1:c.6946A>G ENSP00000505204.1:p.Ile2316Val
ENST00000680952.1:c.6946A>G ENSP00000506407.1:p.Ile2316Val
ENST00000681216.1:c.463A>G ENSP00000505551.1:p.Ile155Val
ENST00000681412.1:c.6970A>G ENSP00000506486.1:p.Ile2324Val
ENST00000681722.1:c.6946A>G ENSP00000506566.1:p.Ile2316Val
XM_006715827.1:c.6829A>G XP_006715890.1:p.Ile2277Val
XM_011515709.1:c.7117A>G XP_011514011.1:p.Ile2373Val
XM_011515710.1:c.7141A>G XP_011514012.1:p.Ile2381Val
XM_011515711.1:c.7081A>G XP_011514013.1:p.Ile2361Val
XM_011515712.1:c.7078A>G XP_011514014.1:p.Ile2360Val
XM_011515713.1:c.7063A>G XP_011514015.1:p.Ile2355Val
XM_011515714.1:c.7102A>G XP_011514016.1:p.Ile2368Val
XM_011515716.1:c.7021A>G XP_011514018.1:p.Ile2341Val
XM_011515717.1:c.6976A>G XP_011514019.1:p.Ile2326Val
XM_011515718.1:c.7006A>G XP_011514020.1:p.Ile2336Val
XM_011515719.1:c.6982A>G XP_011514021.1:p.Ile2328Val
XM_011515720.1:c.6865A>G XP_011514022.1:p.Ile2289Val
XM_011515721.1:c.1630A>G XP_011514023.1:p.Ile544Val
XM_011515722.1:c.1591A>G XP_011514024.1:p.Ile531Val
XM_017011642.2:c.7105A>G XP_016867131.1:p.Ile2369Val
XM_017011643.2:c.7066A>G XP_016867132.1:p.Ile2356Val
XM_017011644.2:c.7105A>G XP_016867133.1:p.Ile2369Val
XM_017011645.2:c.7051A>G XP_016867134.1:p.Ile2351Val
XM_017011646.2:c.7066A>G XP_016867135.1:p.Ile2356Val
XM_017011647.2:c.7012A>G XP_016867136.1:p.Ile2338Val
XM_017011648.2:c.7009A>G XP_016867137.1:p.Ile2337Val
XM_017011649.2:c.7042A>G XP_016867138.1:p.Ile2348Val
XM_017011650.2:c.6970A>G XP_016867139.1:p.Ile2324Val
XM_017011651.2:c.6964A>G XP_016867140.1:p.Ile2322Val
XM_017011652.2:c.7105A>G XP_016867141.1:p.Ile2369Val
XM_017011653.2:c.6877A>G XP_016867142.1:p.Ile2293Val
XM_017011654.2:c.6829A>G XP_016867143.1:p.Ile2277Val
XM_017011655.2:c.6733A>G XP_016867144.1:p.Ile2245Val
XM_017011656.2:c.6733A>G XP_016867145.1:p.Ile2245Val
XM_017011657.2:c.2770A>G XP_016867146.1:p.Ile924Val
XM_017011658.2:c.1654A>G XP_016867147.1:p.Ile552Val
XM_017011659.2:c.1615A>G XP_016867148.1:p.Ile539Val
XM_017011660.2:c.1615A>G XP_016867149.1:p.Ile539Val
XM_024446631.1:c.6868A>G XP_024302399.1:p.Ile2290Val