Canonical Allele Identifier: CA4337247
Community Standard Title: NM_005751.5(AKAP9):c.7190C>G (p.Ala2397Gly)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92079323C>G , CM000669.2:g.92079323C>G GRCh38
NC_000007.13:g.91708637C>G , CM000669.1:g.91708637C>G GRCh37
NC_000007.12:g.91546573C>G NCBI36
NG_011623.1:g.143449C>G , LRG_331:g.143449C>G

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.7190C>G MANE Select NP_005742.4:p.Ala2397Gly
ENST00000356239.8:c.7190C>G MANE Select ENSP00000348573.3:p.Ala2397Gly
NM_001379277.1:c.1835C>G NP_001366206.1:p.Ala612Gly
NM_005751.4:c.7190C>G , LRG_331t1:c.7190C>G NP_005742.4:p.Ala2397Gly
NM_147185.2:c.7166C>G NP_671714.1:p.Ala2389Gly
NM_147185.3:c.7166C>G NP_671714.1:p.Ala2389Gly
ENST00000356239.7:c.7190C>G ENSP00000348573.3:p.Ala2397Gly
ENST00000358100.6:c.7049C>G ENSP00000350813.3:p.Ala2350Gly
ENST00000359028.6:c.7223C>G ENSP00000351922.3:p.Ala2408Gly
ENST00000359028.7:c.7262C>G ENSP00000351922.4:p.Ala2421Gly
ENST00000394534.6:c.728C>G ENSP00000378042.2:p.Ala243Gly
ENST00000394534.7:c.683C>G ENSP00000378042.3:p.Ala228Gly
ENST00000491695.2:c.1835C>G ENSP00000494626.2:p.Ala612Gly
ENST00000674381.2:c.*6919C>G ENSP00000501536.2:n.*6919C>G
ENST00000679448.1:c.7166C>G ENSP00000505889.1:p.Ala2389Gly
ENST00000679457.1:c.7166C>G ENSP00000505450.1:p.Ala2389Gly
ENST00000679474.1:n.7388C>G
ENST00000679521.1:c.7136C>G ENSP00000505456.1:p.Ala2379Gly
ENST00000679554.1:c.*6975C>G ENSP00000506415.1:n.*6975C>G
ENST00000679722.1:n.7412C>G
ENST00000679821.1:c.6932C>G ENSP00000506040.1:p.Ala2311Gly
ENST00000680047.1:n.7388C>G
ENST00000680072.1:c.7013C>G ENSP00000506581.1:p.Ala2338Gly
ENST00000680181.1:c.7097C>G ENSP00000505548.1:p.Ala2366Gly
ENST00000680365.1:c.683C>G ENSP00000506019.1:p.Ala228Gly
ENST00000680513.1:c.7049C>G ENSP00000505284.1:p.Ala2350Gly
ENST00000680534.1:c.7229C>G ENSP00000506674.1:p.Ala2410Gly
ENST00000680766.1:c.7166C>G ENSP00000505204.1:p.Ala2389Gly
ENST00000680952.1:c.7166C>G ENSP00000506407.1:p.Ala2389Gly
ENST00000681216.1:c.683C>G ENSP00000505551.1:p.Ala228Gly
ENST00000681412.1:c.7190C>G ENSP00000506486.1:p.Ala2397Gly
ENST00000681722.1:c.7166C>G ENSP00000506566.1:p.Ala2389Gly
XM_006715827.1:c.7049C>G XP_006715890.1:p.Ala2350Gly
XM_011515709.1:c.7337C>G XP_011514011.1:p.Ala2446Gly
XM_011515710.1:c.7361C>G XP_011514012.1:p.Ala2454Gly
XM_011515711.1:c.7301C>G XP_011514013.1:p.Ala2434Gly
XM_011515712.1:c.7298C>G XP_011514014.1:p.Ala2433Gly
XM_011515713.1:c.7283C>G XP_011514015.1:p.Ala2428Gly
XM_011515714.1:c.7322C>G XP_011514016.1:p.Ala2441Gly
XM_011515716.1:c.7241C>G XP_011514018.1:p.Ala2414Gly
XM_011515717.1:c.7196C>G XP_011514019.1:p.Ala2399Gly
XM_011515718.1:c.7226C>G XP_011514020.1:p.Ala2409Gly
XM_011515719.1:c.7202C>G XP_011514021.1:p.Ala2401Gly
XM_011515720.1:c.7085C>G XP_011514022.1:p.Ala2362Gly
XM_011515721.1:c.1850C>G XP_011514023.1:p.Ala617Gly
XM_011515722.1:c.1811C>G XP_011514024.1:p.Ala604Gly
XM_017011642.2:c.7325C>G XP_016867131.1:p.Ala2442Gly
XM_017011643.2:c.7286C>G XP_016867132.1:p.Ala2429Gly
XM_017011644.2:c.7325C>G XP_016867133.1:p.Ala2442Gly
XM_017011645.2:c.7271C>G XP_016867134.1:p.Ala2424Gly
XM_017011646.2:c.7286C>G XP_016867135.1:p.Ala2429Gly
XM_017011647.2:c.7232C>G XP_016867136.1:p.Ala2411Gly
XM_017011648.2:c.7229C>G XP_016867137.1:p.Ala2410Gly
XM_017011649.2:c.7262C>G XP_016867138.1:p.Ala2421Gly
XM_017011650.2:c.7190C>G XP_016867139.1:p.Ala2397Gly
XM_017011651.2:c.7184C>G XP_016867140.1:p.Ala2395Gly
XM_017011652.2:c.7325C>G XP_016867141.1:p.Ala2442Gly
XM_017011653.2:c.7097C>G XP_016867142.1:p.Ala2366Gly
XM_017011654.2:c.7049C>G XP_016867143.1:p.Ala2350Gly
XM_017011655.2:c.6953C>G XP_016867144.1:p.Ala2318Gly
XM_017011656.2:c.6953C>G XP_016867145.1:p.Ala2318Gly
XM_017011657.2:c.2990C>G XP_016867146.1:p.Ala997Gly
XM_017011658.2:c.1874C>G XP_016867147.1:p.Ala625Gly
XM_017011659.2:c.1835C>G XP_016867148.1:p.Ala612Gly
XM_017011660.2:c.1835C>G XP_016867149.1:p.Ala612Gly
XM_024446631.1:c.7088C>G XP_024302399.1:p.Ala2363Gly