Canonical Allele Identifier: CA4337287
Community Standard Title: NM_005751.5(AKAP9):c.7454C>A (p.Ser2485Tyr)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92079587C>A , CM000669.2:g.92079587C>A GRCh38
NC_000007.13:g.91708901C>A , CM000669.1:g.91708901C>A GRCh37
NC_000007.12:g.91546837C>A NCBI36
NG_011623.1:g.143713C>A , LRG_331:g.143713C>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.7454C>A MANE Select NP_005742.4:p.Ser2485Tyr
ENST00000356239.8:c.7454C>A MANE Select ENSP00000348573.3:p.Ser2485Tyr
NM_001379277.1:c.2099C>A NP_001366206.1:p.Ser700Tyr
NM_005751.4:c.7454C>A , LRG_331t1:c.7454C>A NP_005742.4:p.Ser2485Tyr
NM_147185.2:c.7430C>A NP_671714.1:p.Ser2477Tyr
NM_147185.3:c.7430C>A NP_671714.1:p.Ser2477Tyr
ENST00000356239.7:c.7454C>A ENSP00000348573.3:p.Ser2485Tyr
ENST00000358100.6:c.7313C>A ENSP00000350813.3:p.Ser2438Tyr
ENST00000359028.6:c.7487C>A ENSP00000351922.3:p.Ser2496Tyr
ENST00000359028.7:c.7526C>A ENSP00000351922.4:p.Ser2509Tyr
ENST00000394534.6:c.992C>A ENSP00000378042.2:p.Ser331Tyr
ENST00000394534.7:c.947C>A ENSP00000378042.3:p.Ser316Tyr
ENST00000491695.2:c.2099C>A ENSP00000494626.2:p.Ser700Tyr
ENST00000674381.2:c.*7183C>A ENSP00000501536.2:n.*7183C>A
ENST00000679448.1:c.7430C>A ENSP00000505889.1:p.Ser2477Tyr
ENST00000679457.1:c.7430C>A ENSP00000505450.1:p.Ser2477Tyr
ENST00000679474.1:n.7652C>A
ENST00000679521.1:c.7400C>A ENSP00000505456.1:p.Ser2467Tyr
ENST00000679554.1:c.*7239C>A ENSP00000506415.1:n.*7239C>A
ENST00000679722.1:n.7676C>A
ENST00000679821.1:c.7196C>A ENSP00000506040.1:p.Ser2399Tyr
ENST00000680047.1:n.7652C>A
ENST00000680072.1:c.7277C>A ENSP00000506581.1:p.Ser2426Tyr
ENST00000680181.1:c.7361C>A ENSP00000505548.1:p.Ser2454Tyr
ENST00000680365.1:c.947C>A ENSP00000506019.1:p.Ser316Tyr
ENST00000680513.1:c.7313C>A ENSP00000505284.1:p.Ser2438Tyr
ENST00000680534.1:c.7493C>A ENSP00000506674.1:p.Ser2498Tyr
ENST00000680766.1:c.7430C>A ENSP00000505204.1:p.Ser2477Tyr
ENST00000680952.1:c.7430C>A ENSP00000506407.1:p.Ser2477Tyr
ENST00000681216.1:c.947C>A ENSP00000505551.1:p.Ser316Tyr
ENST00000681412.1:c.7454C>A ENSP00000506486.1:p.Ser2485Tyr
ENST00000681722.1:c.7430C>A ENSP00000506566.1:p.Ser2477Tyr
XM_006715827.1:c.7313C>A XP_006715890.1:p.Ser2438Tyr
XM_011515709.1:c.7601C>A XP_011514011.1:p.Ser2534Tyr
XM_011515710.1:c.7625C>A XP_011514012.1:p.Ser2542Tyr
XM_011515711.1:c.7565C>A XP_011514013.1:p.Ser2522Tyr
XM_011515712.1:c.7562C>A XP_011514014.1:p.Ser2521Tyr
XM_011515713.1:c.7547C>A XP_011514015.1:p.Ser2516Tyr
XM_011515714.1:c.7586C>A XP_011514016.1:p.Ser2529Tyr
XM_011515716.1:c.7505C>A XP_011514018.1:p.Ser2502Tyr
XM_011515717.1:c.7460C>A XP_011514019.1:p.Ser2487Tyr
XM_011515718.1:c.7490C>A XP_011514020.1:p.Ser2497Tyr
XM_011515719.1:c.7466C>A XP_011514021.1:p.Ser2489Tyr
XM_011515720.1:c.7349C>A XP_011514022.1:p.Ser2450Tyr
XM_011515721.1:c.2114C>A XP_011514023.1:p.Ser705Tyr
XM_011515722.1:c.2075C>A XP_011514024.1:p.Ser692Tyr
XM_017011642.2:c.7589C>A XP_016867131.1:p.Ser2530Tyr
XM_017011643.2:c.7550C>A XP_016867132.1:p.Ser2517Tyr
XM_017011644.2:c.7589C>A XP_016867133.1:p.Ser2530Tyr
XM_017011645.2:c.7535C>A XP_016867134.1:p.Ser2512Tyr
XM_017011646.2:c.7550C>A XP_016867135.1:p.Ser2517Tyr
XM_017011647.2:c.7496C>A XP_016867136.1:p.Ser2499Tyr
XM_017011648.2:c.7493C>A XP_016867137.1:p.Ser2498Tyr
XM_017011649.2:c.7526C>A XP_016867138.1:p.Ser2509Tyr
XM_017011650.2:c.7454C>A XP_016867139.1:p.Ser2485Tyr
XM_017011651.2:c.7448C>A XP_016867140.1:p.Ser2483Tyr
XM_017011652.2:c.7589C>A XP_016867141.1:p.Ser2530Tyr
XM_017011653.2:c.7361C>A XP_016867142.1:p.Ser2454Tyr
XM_017011654.2:c.7313C>A XP_016867143.1:p.Ser2438Tyr
XM_017011655.2:c.7217C>A XP_016867144.1:p.Ser2406Tyr
XM_017011656.2:c.7217C>A XP_016867145.1:p.Ser2406Tyr
XM_017011657.2:c.3254C>A XP_016867146.1:p.Ser1085Tyr
XM_017011658.2:c.2138C>A XP_016867147.1:p.Ser713Tyr
XM_017011659.2:c.2099C>A XP_016867148.1:p.Ser700Tyr
XM_017011660.2:c.2099C>A XP_016867149.1:p.Ser700Tyr
XM_024446631.1:c.7352C>A XP_024302399.1:p.Ser2451Tyr