Canonical Allele Identifier: CA368135076
Community Standard Title: NM_005751.5(AKAP9):c.7149T>A (p.Ser2383Arg)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92079282T>A , CM000669.2:g.92079282T>A GRCh38
NC_000007.13:g.91708596T>A , CM000669.1:g.91708596T>A GRCh37
NC_000007.12:g.91546532T>A NCBI36
NG_011623.1:g.143408T>A , LRG_331:g.143408T>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.7149T>A MANE Select NP_005742.4:p.Ser2383Arg
ENST00000356239.8:c.7149T>A MANE Select ENSP00000348573.3:p.Ser2383Arg
NM_001379277.1:c.1794T>A NP_001366206.1:p.Ser598Arg
NM_005751.4:c.7149T>A , LRG_331t1:c.7149T>A NP_005742.4:p.Ser2383Arg
NM_147185.2:c.7125T>A NP_671714.1:p.Ser2375Arg
NM_147185.3:c.7125T>A NP_671714.1:p.Ser2375Arg
ENST00000356239.7:c.7149T>A ENSP00000348573.3:p.Ser2383Arg
ENST00000358100.6:c.7008T>A ENSP00000350813.3:p.Ser2336Arg
ENST00000359028.6:c.7182T>A ENSP00000351922.3:p.Ser2394Arg
ENST00000359028.7:c.7221T>A ENSP00000351922.4:p.Ser2407Arg
ENST00000394534.6:c.687T>A ENSP00000378042.2:p.Ser229Arg
ENST00000394534.7:c.642T>A ENSP00000378042.3:p.Ser214Arg
ENST00000491695.2:c.1794T>A ENSP00000494626.2:p.Ser598Arg
ENST00000674381.2:c.*6878T>A ENSP00000501536.2:n.*6878T>A
ENST00000679448.1:c.7125T>A ENSP00000505889.1:p.Ser2375Arg
ENST00000679457.1:c.7125T>A ENSP00000505450.1:p.Ser2375Arg
ENST00000679474.1:n.7347T>A
ENST00000679521.1:c.7095T>A ENSP00000505456.1:p.Ser2365Arg
ENST00000679554.1:c.*6934T>A ENSP00000506415.1:n.*6934T>A
ENST00000679722.1:n.7371T>A
ENST00000679821.1:c.6891T>A ENSP00000506040.1:p.Ser2297Arg
ENST00000680047.1:n.7347T>A
ENST00000680072.1:c.6972T>A ENSP00000506581.1:p.Ser2324Arg
ENST00000680181.1:c.7056T>A ENSP00000505548.1:p.Ser2352Arg
ENST00000680365.1:c.642T>A ENSP00000506019.1:p.Ser214Arg
ENST00000680513.1:c.7008T>A ENSP00000505284.1:p.Ser2336Arg
ENST00000680534.1:c.7188T>A ENSP00000506674.1:p.Ser2396Arg
ENST00000680766.1:c.7125T>A ENSP00000505204.1:p.Ser2375Arg
ENST00000680952.1:c.7125T>A ENSP00000506407.1:p.Ser2375Arg
ENST00000681216.1:c.642T>A ENSP00000505551.1:p.Ser214Arg
ENST00000681412.1:c.7149T>A ENSP00000506486.1:p.Ser2383Arg
ENST00000681722.1:c.7125T>A ENSP00000506566.1:p.Ser2375Arg
XM_006715827.1:c.7008T>A XP_006715890.1:p.Ser2336Arg
XM_011515709.1:c.7296T>A XP_011514011.1:p.Ser2432Arg
XM_011515710.1:c.7320T>A XP_011514012.1:p.Ser2440Arg
XM_011515711.1:c.7260T>A XP_011514013.1:p.Ser2420Arg
XM_011515712.1:c.7257T>A XP_011514014.1:p.Ser2419Arg
XM_011515713.1:c.7242T>A XP_011514015.1:p.Ser2414Arg
XM_011515714.1:c.7281T>A XP_011514016.1:p.Ser2427Arg
XM_011515716.1:c.7200T>A XP_011514018.1:p.Ser2400Arg
XM_011515717.1:c.7155T>A XP_011514019.1:p.Ser2385Arg
XM_011515718.1:c.7185T>A XP_011514020.1:p.Ser2395Arg
XM_011515719.1:c.7161T>A XP_011514021.1:p.Ser2387Arg
XM_011515720.1:c.7044T>A XP_011514022.1:p.Ser2348Arg
XM_011515721.1:c.1809T>A XP_011514023.1:p.Ser603Arg
XM_011515722.1:c.1770T>A XP_011514024.1:p.Ser590Arg
XM_017011642.2:c.7284T>A XP_016867131.1:p.Ser2428Arg
XM_017011643.2:c.7245T>A XP_016867132.1:p.Ser2415Arg
XM_017011644.2:c.7284T>A XP_016867133.1:p.Ser2428Arg
XM_017011645.2:c.7230T>A XP_016867134.1:p.Ser2410Arg
XM_017011646.2:c.7245T>A XP_016867135.1:p.Ser2415Arg
XM_017011647.2:c.7191T>A XP_016867136.1:p.Ser2397Arg
XM_017011648.2:c.7188T>A XP_016867137.1:p.Ser2396Arg
XM_017011649.2:c.7221T>A XP_016867138.1:p.Ser2407Arg
XM_017011650.2:c.7149T>A XP_016867139.1:p.Ser2383Arg
XM_017011651.2:c.7143T>A XP_016867140.1:p.Ser2381Arg
XM_017011652.2:c.7284T>A XP_016867141.1:p.Ser2428Arg
XM_017011653.2:c.7056T>A XP_016867142.1:p.Ser2352Arg
XM_017011654.2:c.7008T>A XP_016867143.1:p.Ser2336Arg
XM_017011655.2:c.6912T>A XP_016867144.1:p.Ser2304Arg
XM_017011656.2:c.6912T>A XP_016867145.1:p.Ser2304Arg
XM_017011657.2:c.2949T>A XP_016867146.1:p.Ser983Arg
XM_017011658.2:c.1833T>A XP_016867147.1:p.Ser611Arg
XM_017011659.2:c.1794T>A XP_016867148.1:p.Ser598Arg
XM_017011660.2:c.1794T>A XP_016867149.1:p.Ser598Arg
XM_024446631.1:c.7047T>A XP_024302399.1:p.Ser2349Arg