Canonical Allele Identifier: CA4337251
Community Standard Title: NM_005751.5(AKAP9):c.7213G>A (p.Ala2405Thr)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92079346G>A , CM000669.2:g.92079346G>A GRCh38
NC_000007.13:g.91708660G>A , CM000669.1:g.91708660G>A GRCh37
NC_000007.12:g.91546596G>A NCBI36
NG_011623.1:g.143472G>A , LRG_331:g.143472G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.7213G>A MANE Select NP_005742.4:p.Ala2405Thr
ENST00000356239.8:c.7213G>A MANE Select ENSP00000348573.3:p.Ala2405Thr
NM_001379277.1:c.1858G>A NP_001366206.1:p.Ala620Thr
NM_005751.4:c.7213G>A , LRG_331t1:c.7213G>A NP_005742.4:p.Ala2405Thr
NM_147185.2:c.7189G>A NP_671714.1:p.Ala2397Thr
NM_147185.3:c.7189G>A NP_671714.1:p.Ala2397Thr
ENST00000356239.7:c.7213G>A ENSP00000348573.3:p.Ala2405Thr
ENST00000358100.6:c.7072G>A ENSP00000350813.3:p.Ala2358Thr
ENST00000359028.6:c.7246G>A ENSP00000351922.3:p.Ala2416Thr
ENST00000359028.7:c.7285G>A ENSP00000351922.4:p.Ala2429Thr
ENST00000394534.6:c.751G>A ENSP00000378042.2:p.Ala251Thr
ENST00000394534.7:c.706G>A ENSP00000378042.3:p.Ala236Thr
ENST00000491695.2:c.1858G>A ENSP00000494626.2:p.Ala620Thr
ENST00000674381.2:c.*6942G>A ENSP00000501536.2:n.*6942G>A
ENST00000679448.1:c.7189G>A ENSP00000505889.1:p.Ala2397Thr
ENST00000679457.1:c.7189G>A ENSP00000505450.1:p.Ala2397Thr
ENST00000679474.1:n.7411G>A
ENST00000679521.1:c.7159G>A ENSP00000505456.1:p.Ala2387Thr
ENST00000679554.1:c.*6998G>A ENSP00000506415.1:n.*6998G>A
ENST00000679722.1:n.7435G>A
ENST00000679821.1:c.6955G>A ENSP00000506040.1:p.Ala2319Thr
ENST00000680047.1:n.7411G>A
ENST00000680072.1:c.7036G>A ENSP00000506581.1:p.Ala2346Thr
ENST00000680181.1:c.7120G>A ENSP00000505548.1:p.Ala2374Thr
ENST00000680365.1:c.706G>A ENSP00000506019.1:p.Ala236Thr
ENST00000680513.1:c.7072G>A ENSP00000505284.1:p.Ala2358Thr
ENST00000680534.1:c.7252G>A ENSP00000506674.1:p.Ala2418Thr
ENST00000680766.1:c.7189G>A ENSP00000505204.1:p.Ala2397Thr
ENST00000680952.1:c.7189G>A ENSP00000506407.1:p.Ala2397Thr
ENST00000681216.1:c.706G>A ENSP00000505551.1:p.Ala236Thr
ENST00000681412.1:c.7213G>A ENSP00000506486.1:p.Ala2405Thr
ENST00000681722.1:c.7189G>A ENSP00000506566.1:p.Ala2397Thr
XM_006715827.1:c.7072G>A XP_006715890.1:p.Ala2358Thr
XM_011515709.1:c.7360G>A XP_011514011.1:p.Ala2454Thr
XM_011515710.1:c.7384G>A XP_011514012.1:p.Ala2462Thr
XM_011515711.1:c.7324G>A XP_011514013.1:p.Ala2442Thr
XM_011515712.1:c.7321G>A XP_011514014.1:p.Ala2441Thr
XM_011515713.1:c.7306G>A XP_011514015.1:p.Ala2436Thr
XM_011515714.1:c.7345G>A XP_011514016.1:p.Ala2449Thr
XM_011515716.1:c.7264G>A XP_011514018.1:p.Ala2422Thr
XM_011515717.1:c.7219G>A XP_011514019.1:p.Ala2407Thr
XM_011515718.1:c.7249G>A XP_011514020.1:p.Ala2417Thr
XM_011515719.1:c.7225G>A XP_011514021.1:p.Ala2409Thr
XM_011515720.1:c.7108G>A XP_011514022.1:p.Ala2370Thr
XM_011515721.1:c.1873G>A XP_011514023.1:p.Ala625Thr
XM_011515722.1:c.1834G>A XP_011514024.1:p.Ala612Thr
XM_017011642.2:c.7348G>A XP_016867131.1:p.Ala2450Thr
XM_017011643.2:c.7309G>A XP_016867132.1:p.Ala2437Thr
XM_017011644.2:c.7348G>A XP_016867133.1:p.Ala2450Thr
XM_017011645.2:c.7294G>A XP_016867134.1:p.Ala2432Thr
XM_017011646.2:c.7309G>A XP_016867135.1:p.Ala2437Thr
XM_017011647.2:c.7255G>A XP_016867136.1:p.Ala2419Thr
XM_017011648.2:c.7252G>A XP_016867137.1:p.Ala2418Thr
XM_017011649.2:c.7285G>A XP_016867138.1:p.Ala2429Thr
XM_017011650.2:c.7213G>A XP_016867139.1:p.Ala2405Thr
XM_017011651.2:c.7207G>A XP_016867140.1:p.Ala2403Thr
XM_017011652.2:c.7348G>A XP_016867141.1:p.Ala2450Thr
XM_017011653.2:c.7120G>A XP_016867142.1:p.Ala2374Thr
XM_017011654.2:c.7072G>A XP_016867143.1:p.Ala2358Thr
XM_017011655.2:c.6976G>A XP_016867144.1:p.Ala2326Thr
XM_017011656.2:c.6976G>A XP_016867145.1:p.Ala2326Thr
XM_017011657.2:c.3013G>A XP_016867146.1:p.Ala1005Thr
XM_017011658.2:c.1897G>A XP_016867147.1:p.Ala633Thr
XM_017011659.2:c.1858G>A XP_016867148.1:p.Ala620Thr
XM_017011660.2:c.1858G>A XP_016867149.1:p.Ala620Thr
XM_024446631.1:c.7111G>A XP_024302399.1:p.Ala2371Thr