Canonical Allele Identifier: CA4337342
Community Standard Title: NM_005751.5(AKAP9):c.7775T>A (p.Leu2592Gln)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92079908T>A , CM000669.2:g.92079908T>A GRCh38
NC_000007.13:g.91709222T>A , CM000669.1:g.91709222T>A GRCh37
NC_000007.12:g.91547158T>A NCBI36
NG_011623.1:g.144034T>A , LRG_331:g.144034T>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.7775T>A MANE Select NP_005742.4:p.Leu2592Gln
ENST00000356239.8:c.7775T>A MANE Select ENSP00000348573.3:p.Leu2592Gln
NM_001379277.1:c.2420T>A NP_001366206.1:p.Leu807Gln
NM_005751.4:c.7775T>A , LRG_331t1:c.7775T>A NP_005742.4:p.Leu2592Gln
NM_147185.2:c.7751T>A NP_671714.1:p.Leu2584Gln
NM_147185.3:c.7751T>A NP_671714.1:p.Leu2584Gln
ENST00000356239.7:c.7775T>A ENSP00000348573.3:p.Leu2592Gln
ENST00000358100.6:c.7634T>A ENSP00000350813.3:p.Leu2545Gln
ENST00000359028.6:c.7808T>A ENSP00000351922.3:p.Leu2603Gln
ENST00000359028.7:c.7847T>A ENSP00000351922.4:p.Leu2616Gln
ENST00000394534.6:c.1313T>A ENSP00000378042.2:p.Leu438Gln
ENST00000394534.7:c.1268T>A ENSP00000378042.3:p.Leu423Gln
ENST00000491695.2:c.2420T>A ENSP00000494626.2:p.Leu807Gln
ENST00000674381.2:c.*7504T>A ENSP00000501536.2:n.*7504T>A
ENST00000679448.1:c.7751T>A ENSP00000505889.1:p.Leu2584Gln
ENST00000679457.1:c.7751T>A ENSP00000505450.1:p.Leu2584Gln
ENST00000679474.1:n.7973T>A
ENST00000679521.1:c.7721T>A ENSP00000505456.1:p.Leu2574Gln
ENST00000679554.1:c.*7560T>A ENSP00000506415.1:n.*7560T>A
ENST00000679722.1:n.7997T>A
ENST00000679821.1:c.7517T>A ENSP00000506040.1:p.Leu2506Gln
ENST00000680047.1:n.7973T>A
ENST00000680072.1:c.7598T>A ENSP00000506581.1:p.Leu2533Gln
ENST00000680181.1:c.7682T>A ENSP00000505548.1:p.Leu2561Gln
ENST00000680365.1:c.1268T>A ENSP00000506019.1:p.Leu423Gln
ENST00000680513.1:c.7634T>A ENSP00000505284.1:p.Leu2545Gln
ENST00000680534.1:c.7814T>A ENSP00000506674.1:p.Leu2605Gln
ENST00000680766.1:c.7751T>A ENSP00000505204.1:p.Leu2584Gln
ENST00000680952.1:c.7751T>A ENSP00000506407.1:p.Leu2584Gln
ENST00000681216.1:c.1268T>A ENSP00000505551.1:p.Leu423Gln
ENST00000681412.1:c.7775T>A ENSP00000506486.1:p.Leu2592Gln
ENST00000681722.1:c.7751T>A ENSP00000506566.1:p.Leu2584Gln
XM_006715827.1:c.7634T>A XP_006715890.1:p.Leu2545Gln
XM_011515709.1:c.7922T>A XP_011514011.1:p.Leu2641Gln
XM_011515710.1:c.7946T>A XP_011514012.1:p.Leu2649Gln
XM_011515711.1:c.7886T>A XP_011514013.1:p.Leu2629Gln
XM_011515712.1:c.7883T>A XP_011514014.1:p.Leu2628Gln
XM_011515713.1:c.7868T>A XP_011514015.1:p.Leu2623Gln
XM_011515714.1:c.7907T>A XP_011514016.1:p.Leu2636Gln
XM_011515716.1:c.7826T>A XP_011514018.1:p.Leu2609Gln
XM_011515717.1:c.7781T>A XP_011514019.1:p.Leu2594Gln
XM_011515718.1:c.7811T>A XP_011514020.1:p.Leu2604Gln
XM_011515719.1:c.7787T>A XP_011514021.1:p.Leu2596Gln
XM_011515720.1:c.7670T>A XP_011514022.1:p.Leu2557Gln
XM_011515721.1:c.2435T>A XP_011514023.1:p.Leu812Gln
XM_011515722.1:c.2396T>A XP_011514024.1:p.Leu799Gln
XM_017011642.2:c.7910T>A XP_016867131.1:p.Leu2637Gln
XM_017011643.2:c.7871T>A XP_016867132.1:p.Leu2624Gln
XM_017011644.2:c.7910T>A XP_016867133.1:p.Leu2637Gln
XM_017011645.2:c.7856T>A XP_016867134.1:p.Leu2619Gln
XM_017011646.2:c.7871T>A XP_016867135.1:p.Leu2624Gln
XM_017011647.2:c.7817T>A XP_016867136.1:p.Leu2606Gln
XM_017011648.2:c.7814T>A XP_016867137.1:p.Leu2605Gln
XM_017011649.2:c.7847T>A XP_016867138.1:p.Leu2616Gln
XM_017011650.2:c.7775T>A XP_016867139.1:p.Leu2592Gln
XM_017011651.2:c.7769T>A XP_016867140.1:p.Leu2590Gln
XM_017011652.2:c.7910T>A XP_016867141.1:p.Leu2637Gln
XM_017011653.2:c.7682T>A XP_016867142.1:p.Leu2561Gln
XM_017011654.2:c.7634T>A XP_016867143.1:p.Leu2545Gln
XM_017011655.2:c.7538T>A XP_016867144.1:p.Leu2513Gln
XM_017011656.2:c.7538T>A XP_016867145.1:p.Leu2513Gln
XM_017011657.2:c.3575T>A XP_016867146.1:p.Leu1192Gln
XM_017011658.2:c.2459T>A XP_016867147.1:p.Leu820Gln
XM_017011659.2:c.2420T>A XP_016867148.1:p.Leu807Gln
XM_017011660.2:c.2420T>A XP_016867149.1:p.Leu807Gln
XM_024446631.1:c.7673T>A XP_024302399.1:p.Leu2558Gln