Canonical Allele Identifier: CA368133602
Gene: AKAP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2757542
ClinVar RCV Id: RCV003531850
gnomAD v4: 7-92077727-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92077727A>G , CM000669.2:g.92077727A>G GRCh38
NC_000007.13:g.91707041A>G , CM000669.1:g.91707041A>G GRCh37
NC_000007.12:g.91544977A>G NCBI36
NG_011623.1:g.141853A>G , LRG_331:g.141853A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356239.8:c.6797A>G MANE Select ENSP00000348573.3:p.Lys2266Arg
ENST00000359028.7:c.6869A>G ENSP00000351922.4:p.Lys2290Arg
ENST00000394534.7:c.290A>G ENSP00000378042.3:p.Lys97Arg
ENST00000491695.2:c.1442A>G ENSP00000494626.2:p.Lys481Arg
ENST00000674381.2:c.*6526A>G ENSP00000501536.2:n.*6526A>G
ENST00000679448.1:c.6773A>G ENSP00000505889.1:p.Lys2258Arg
ENST00000679457.1:c.6773A>G ENSP00000505450.1:p.Lys2258Arg
ENST00000679474.1:n.6995A>G
ENST00000679521.1:c.6743A>G ENSP00000505456.1:p.Lys2248Arg
ENST00000679554.1:c.*6582A>G ENSP00000506415.1:n.*6582A>G
ENST00000679722.1:n.7019A>G
ENST00000679821.1:c.6539A>G ENSP00000506040.1:p.Lys2180Arg
ENST00000680047.1:n.6995A>G
ENST00000680072.1:c.6620A>G ENSP00000506581.1:p.Lys2207Arg
ENST00000680181.1:c.6704A>G ENSP00000505548.1:p.Lys2235Arg
ENST00000680365.1:c.290A>G ENSP00000506019.1:p.Lys97Arg
ENST00000680513.1:c.6656A>G ENSP00000505284.1:p.Lys2219Arg
ENST00000680534.1:c.6836A>G ENSP00000506674.1:p.Lys2279Arg
ENST00000680766.1:c.6773A>G ENSP00000505204.1:p.Lys2258Arg
ENST00000680952.1:c.6773A>G ENSP00000506407.1:p.Lys2258Arg
ENST00000681216.1:c.290A>G ENSP00000505551.1:p.Lys97Arg
ENST00000681412.1:c.6797A>G ENSP00000506486.1:p.Lys2266Arg
ENST00000681722.1:c.6773A>G ENSP00000506566.1:p.Lys2258Arg
ENST00000356239.7:c.6797A>G ENSP00000348573.3:p.Lys2266Arg
ENST00000358100.6:c.6656A>G ENSP00000350813.3:p.Lys2219Arg
ENST00000359028.6:c.6830A>G ENSP00000351922.3:p.Lys2277Arg
ENST00000394534.6:c.335A>G ENSP00000378042.2:p.Lys112Arg
NM_005751.4:c.6797A>G , LRG_331t1:c.6797A>G NP_005742.4:p.Lys2266Arg
NM_147185.2:c.6773A>G NP_671714.1:p.Lys2258Arg
XM_006715827.1:c.6656A>G XP_006715890.1:p.Lys2219Arg
XM_011515709.1:c.6944A>G XP_011514011.1:p.Lys2315Arg
XM_011515710.1:c.6968A>G XP_011514012.1:p.Lys2323Arg
XM_011515711.1:c.6908A>G XP_011514013.1:p.Lys2303Arg
XM_011515712.1:c.6905A>G XP_011514014.1:p.Lys2302Arg
XM_011515713.1:c.6890A>G XP_011514015.1:p.Lys2297Arg
XM_011515714.1:c.6929A>G XP_011514016.1:p.Lys2310Arg
XM_011515716.1:c.6848A>G XP_011514018.1:p.Lys2283Arg
XM_011515717.1:c.6803A>G XP_011514019.1:p.Lys2268Arg
XM_011515718.1:c.6833A>G XP_011514020.1:p.Lys2278Arg
XM_011515719.1:c.6809A>G XP_011514021.1:p.Lys2270Arg
XM_011515720.1:c.6692A>G XP_011514022.1:p.Lys2231Arg
XM_011515721.1:c.1457A>G XP_011514023.1:p.Lys486Arg
XM_011515722.1:c.1418A>G XP_011514024.1:p.Lys473Arg
XM_017011642.2:c.6932A>G XP_016867131.1:p.Lys2311Arg
XM_017011643.2:c.6893A>G XP_016867132.1:p.Lys2298Arg
XM_017011644.2:c.6932A>G XP_016867133.1:p.Lys2311Arg
XM_017011645.2:c.6878A>G XP_016867134.1:p.Lys2293Arg
XM_017011646.2:c.6893A>G XP_016867135.1:p.Lys2298Arg
XM_017011647.2:c.6839A>G XP_016867136.1:p.Lys2280Arg
XM_017011648.2:c.6836A>G XP_016867137.1:p.Lys2279Arg
XM_017011649.2:c.6869A>G XP_016867138.1:p.Lys2290Arg
XM_017011650.2:c.6797A>G XP_016867139.1:p.Lys2266Arg
XM_017011651.2:c.6791A>G XP_016867140.1:p.Lys2264Arg
XM_017011652.2:c.6932A>G XP_016867141.1:p.Lys2311Arg
XM_017011653.2:c.6704A>G XP_016867142.1:p.Lys2235Arg
XM_017011654.2:c.6656A>G XP_016867143.1:p.Lys2219Arg
XM_017011655.2:c.6560A>G XP_016867144.1:p.Lys2187Arg
XM_017011656.2:c.6560A>G XP_016867145.1:p.Lys2187Arg
XM_017011657.2:c.2597A>G XP_016867146.1:p.Lys866Arg
XM_017011658.2:c.1481A>G XP_016867147.1:p.Lys494Arg
XM_017011659.2:c.1442A>G XP_016867148.1:p.Lys481Arg
XM_017011660.2:c.1442A>G XP_016867149.1:p.Lys481Arg
XM_024446631.1:c.6695A>G XP_024302399.1:p.Lys2232Arg
NM_147185.3:c.6773A>G NP_671714.1:p.Lys2258Arg
NM_001379277.1:c.1442A>G NP_001366206.1:p.Lys481Arg
NM_005751.5:c.6797A>G MANE Select NP_005742.4:p.Lys2266Arg