Canonical Allele Identifier: CA368133364
Community Standard Title: NM_005751.5(AKAP9):c.6296G>A (p.Arg2099Gln)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92066512G>A , CM000669.2:g.92066512G>A GRCh38
NC_000007.13:g.91695826G>A , CM000669.1:g.91695826G>A GRCh37
NC_000007.12:g.91533762G>A NCBI36
NG_011623.1:g.130638G>A , LRG_331:g.130638G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.6296G>A MANE Select NP_005742.4:p.Arg2099Gln
ENST00000356239.8:c.6296G>A MANE Select ENSP00000348573.3:p.Arg2099Gln
NM_001379277.1:c.941G>A NP_001366206.1:p.Arg314Gln
NM_005751.4:c.6296G>A , LRG_331t1:c.6296G>A NP_005742.4:p.Arg2099Gln
NM_147185.2:c.6296G>A NP_671714.1:p.Arg2099Gln
NM_147185.3:c.6296G>A NP_671714.1:p.Arg2099Gln
ENST00000356239.7:c.6296G>A ENSP00000348573.3:p.Arg2099Gln
ENST00000358100.6:c.6155G>A ENSP00000350813.3:p.Arg2052Gln
ENST00000359028.6:c.6329G>A ENSP00000351922.3:p.Arg2110Gln
ENST00000359028.7:c.6392G>A ENSP00000351922.4:p.Arg2131Gln
ENST00000491695.2:c.941G>A ENSP00000494626.2:p.Arg314Gln
ENST00000674381.2:c.*6025G>A ENSP00000501536.2:n.*6025G>A
ENST00000679448.1:c.6296G>A ENSP00000505889.1:p.Arg2099Gln
ENST00000679457.1:c.6296G>A ENSP00000505450.1:p.Arg2099Gln
ENST00000679474.1:n.6518G>A
ENST00000679521.1:c.6242G>A ENSP00000505456.1:p.Arg2081Gln
ENST00000679554.1:c.*6081G>A ENSP00000506415.1:n.*6081G>A
ENST00000679722.1:n.6518G>A
ENST00000679821.1:c.6038G>A ENSP00000506040.1:p.Arg2013Gln
ENST00000680047.1:n.6518G>A
ENST00000680072.1:c.6296G>A ENSP00000506581.1:p.Arg2099Gln
ENST00000680074.1:n.9262G>A
ENST00000680181.1:c.6203G>A ENSP00000505548.1:p.Arg2068Gln
ENST00000680513.1:c.6155G>A ENSP00000505284.1:p.Arg2052Gln
ENST00000680534.1:c.6335G>A ENSP00000506674.1:p.Arg2112Gln
ENST00000680766.1:c.6296G>A ENSP00000505204.1:p.Arg2099Gln
ENST00000680952.1:c.6296G>A ENSP00000506407.1:p.Arg2099Gln
ENST00000681412.1:c.6296G>A ENSP00000506486.1:p.Arg2099Gln
ENST00000681722.1:c.6296G>A ENSP00000506566.1:p.Arg2099Gln
XM_006715827.1:c.6155G>A XP_006715890.1:p.Arg2052Gln
XM_011515709.1:c.6467G>A XP_011514011.1:p.Arg2156Gln
XM_011515710.1:c.6467G>A XP_011514012.1:p.Arg2156Gln
XM_011515711.1:c.6431G>A XP_011514013.1:p.Arg2144Gln
XM_011515712.1:c.6428G>A XP_011514014.1:p.Arg2143Gln
XM_011515713.1:c.6413G>A XP_011514015.1:p.Arg2138Gln
XM_011515714.1:c.6428G>A XP_011514016.1:p.Arg2143Gln
XM_011515716.1:c.6371G>A XP_011514018.1:p.Arg2124Gln
XM_011515717.1:c.6326G>A XP_011514019.1:p.Arg2109Gln
XM_011515718.1:c.6332G>A XP_011514020.1:p.Arg2111Gln
XM_011515719.1:c.6332G>A XP_011514021.1:p.Arg2111Gln
XM_011515720.1:c.6191G>A XP_011514022.1:p.Arg2064Gln
XM_011515721.1:c.980G>A XP_011514023.1:p.Arg327Gln
XM_011515722.1:c.941G>A XP_011514024.1:p.Arg314Gln
XM_017011642.2:c.6431G>A XP_016867131.1:p.Arg2144Gln
XM_017011643.2:c.6392G>A XP_016867132.1:p.Arg2131Gln
XM_017011644.2:c.6431G>A XP_016867133.1:p.Arg2144Gln
XM_017011645.2:c.6377G>A XP_016867134.1:p.Arg2126Gln
XM_017011646.2:c.6392G>A XP_016867135.1:p.Arg2131Gln
XM_017011647.2:c.6338G>A XP_016867136.1:p.Arg2113Gln
XM_017011648.2:c.6335G>A XP_016867137.1:p.Arg2112Gln
XM_017011649.2:c.6392G>A XP_016867138.1:p.Arg2131Gln
XM_017011650.2:c.6296G>A XP_016867139.1:p.Arg2099Gln
XM_017011651.2:c.6290G>A XP_016867140.1:p.Arg2097Gln
XM_017011652.2:c.6431G>A XP_016867141.1:p.Arg2144Gln
XM_017011653.2:c.6203G>A XP_016867142.1:p.Arg2068Gln
XM_017011654.2:c.6155G>A XP_016867143.1:p.Arg2052Gln
XM_017011655.2:c.6059G>A XP_016867144.1:p.Arg2020Gln
XM_017011656.2:c.6059G>A XP_016867145.1:p.Arg2020Gln
XM_017011657.2:c.2096G>A XP_016867146.1:p.Arg699Gln
XM_017011658.2:c.980G>A XP_016867147.1:p.Arg327Gln
XM_017011659.2:c.941G>A XP_016867148.1:p.Arg314Gln
XM_017011660.2:c.941G>A XP_016867149.1:p.Arg314Gln
XM_024446631.1:c.6194G>A XP_024302399.1:p.Arg2065Gln