Canonical Allele Identifier: CA368133624
Gene: AKAP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2149284
ClinVar RCV Id: RCV003065404
dbSNP Id: rs765553799
gnomAD v4: 7-92077736-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92077736A>G , CM000669.2:g.92077736A>G GRCh38
NC_000007.13:g.91707050A>G , CM000669.1:g.91707050A>G GRCh37
NC_000007.12:g.91544986A>G NCBI36
NG_011623.1:g.141862A>G , LRG_331:g.141862A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356239.8:c.6806A>G MANE Select ENSP00000348573.3:p.Asp2269Gly
ENST00000359028.7:c.6878A>G ENSP00000351922.4:p.Asp2293Gly
ENST00000394534.7:c.299A>G ENSP00000378042.3:p.Asp100Gly
ENST00000491695.2:c.1451A>G ENSP00000494626.2:p.Asp484Gly
ENST00000674381.2:c.*6535A>G ENSP00000501536.2:n.*6535A>G
ENST00000679448.1:c.6782A>G ENSP00000505889.1:p.Asp2261Gly
ENST00000679457.1:c.6782A>G ENSP00000505450.1:p.Asp2261Gly
ENST00000679474.1:n.7004A>G
ENST00000679521.1:c.6752A>G ENSP00000505456.1:p.Asp2251Gly
ENST00000679554.1:c.*6591A>G ENSP00000506415.1:n.*6591A>G
ENST00000679722.1:n.7028A>G
ENST00000679821.1:c.6548A>G ENSP00000506040.1:p.Asp2183Gly
ENST00000680047.1:n.7004A>G
ENST00000680072.1:c.6629A>G ENSP00000506581.1:p.Asp2210Gly
ENST00000680181.1:c.6713A>G ENSP00000505548.1:p.Asp2238Gly
ENST00000680365.1:c.299A>G ENSP00000506019.1:p.Asp100Gly
ENST00000680513.1:c.6665A>G ENSP00000505284.1:p.Asp2222Gly
ENST00000680534.1:c.6845A>G ENSP00000506674.1:p.Asp2282Gly
ENST00000680766.1:c.6782A>G ENSP00000505204.1:p.Asp2261Gly
ENST00000680952.1:c.6782A>G ENSP00000506407.1:p.Asp2261Gly
ENST00000681216.1:c.299A>G ENSP00000505551.1:p.Asp100Gly
ENST00000681412.1:c.6806A>G ENSP00000506486.1:p.Asp2269Gly
ENST00000681722.1:c.6782A>G ENSP00000506566.1:p.Asp2261Gly
ENST00000356239.7:c.6806A>G ENSP00000348573.3:p.Asp2269Gly
ENST00000358100.6:c.6665A>G ENSP00000350813.3:p.Asp2222Gly
ENST00000359028.6:c.6839A>G ENSP00000351922.3:p.Asp2280Gly
ENST00000394534.6:c.344A>G ENSP00000378042.2:p.Asp115Gly
NM_005751.4:c.6806A>G , LRG_331t1:c.6806A>G NP_005742.4:p.Asp2269Gly
NM_147185.2:c.6782A>G NP_671714.1:p.Asp2261Gly
XM_006715827.1:c.6665A>G XP_006715890.1:p.Asp2222Gly
XM_011515709.1:c.6953A>G XP_011514011.1:p.Asp2318Gly
XM_011515710.1:c.6977A>G XP_011514012.1:p.Asp2326Gly
XM_011515711.1:c.6917A>G XP_011514013.1:p.Asp2306Gly
XM_011515712.1:c.6914A>G XP_011514014.1:p.Asp2305Gly
XM_011515713.1:c.6899A>G XP_011514015.1:p.Asp2300Gly
XM_011515714.1:c.6938A>G XP_011514016.1:p.Asp2313Gly
XM_011515716.1:c.6857A>G XP_011514018.1:p.Asp2286Gly
XM_011515717.1:c.6812A>G XP_011514019.1:p.Asp2271Gly
XM_011515718.1:c.6842A>G XP_011514020.1:p.Asp2281Gly
XM_011515719.1:c.6818A>G XP_011514021.1:p.Asp2273Gly
XM_011515720.1:c.6701A>G XP_011514022.1:p.Asp2234Gly
XM_011515721.1:c.1466A>G XP_011514023.1:p.Asp489Gly
XM_011515722.1:c.1427A>G XP_011514024.1:p.Asp476Gly
XM_017011642.2:c.6941A>G XP_016867131.1:p.Asp2314Gly
XM_017011643.2:c.6902A>G XP_016867132.1:p.Asp2301Gly
XM_017011644.2:c.6941A>G XP_016867133.1:p.Asp2314Gly
XM_017011645.2:c.6887A>G XP_016867134.1:p.Asp2296Gly
XM_017011646.2:c.6902A>G XP_016867135.1:p.Asp2301Gly
XM_017011647.2:c.6848A>G XP_016867136.1:p.Asp2283Gly
XM_017011648.2:c.6845A>G XP_016867137.1:p.Asp2282Gly
XM_017011649.2:c.6878A>G XP_016867138.1:p.Asp2293Gly
XM_017011650.2:c.6806A>G XP_016867139.1:p.Asp2269Gly
XM_017011651.2:c.6800A>G XP_016867140.1:p.Asp2267Gly
XM_017011652.2:c.6941A>G XP_016867141.1:p.Asp2314Gly
XM_017011653.2:c.6713A>G XP_016867142.1:p.Asp2238Gly
XM_017011654.2:c.6665A>G XP_016867143.1:p.Asp2222Gly
XM_017011655.2:c.6569A>G XP_016867144.1:p.Asp2190Gly
XM_017011656.2:c.6569A>G XP_016867145.1:p.Asp2190Gly
XM_017011657.2:c.2606A>G XP_016867146.1:p.Asp869Gly
XM_017011658.2:c.1490A>G XP_016867147.1:p.Asp497Gly
XM_017011659.2:c.1451A>G XP_016867148.1:p.Asp484Gly
XM_017011660.2:c.1451A>G XP_016867149.1:p.Asp484Gly
XM_024446631.1:c.6704A>G XP_024302399.1:p.Asp2235Gly
NM_147185.3:c.6782A>G NP_671714.1:p.Asp2261Gly
NM_001379277.1:c.1451A>G NP_001366206.1:p.Asp484Gly
NM_005751.5:c.6806A>G MANE Select NP_005742.4:p.Asp2269Gly