Canonical Allele Identifier: CA368135766
Community Standard Title: NM_005751.5(AKAP9):c.7453T>C (p.Ser2485Pro)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92079586T>C , CM000669.2:g.92079586T>C GRCh38
NC_000007.13:g.91708900T>C , CM000669.1:g.91708900T>C GRCh37
NC_000007.12:g.91546836T>C NCBI36
NG_011623.1:g.143712T>C , LRG_331:g.143712T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.7453T>C MANE Select NP_005742.4:p.Ser2485Pro
ENST00000356239.8:c.7453T>C MANE Select ENSP00000348573.3:p.Ser2485Pro
NM_001379277.1:c.2098T>C NP_001366206.1:p.Ser700Pro
NM_005751.4:c.7453T>C , LRG_331t1:c.7453T>C NP_005742.4:p.Ser2485Pro
NM_147185.2:c.7429T>C NP_671714.1:p.Ser2477Pro
NM_147185.3:c.7429T>C NP_671714.1:p.Ser2477Pro
ENST00000356239.7:c.7453T>C ENSP00000348573.3:p.Ser2485Pro
ENST00000358100.6:c.7312T>C ENSP00000350813.3:p.Ser2438Pro
ENST00000359028.6:c.7486T>C ENSP00000351922.3:p.Ser2496Pro
ENST00000359028.7:c.7525T>C ENSP00000351922.4:p.Ser2509Pro
ENST00000394534.6:c.991T>C ENSP00000378042.2:p.Ser331Pro
ENST00000394534.7:c.946T>C ENSP00000378042.3:p.Ser316Pro
ENST00000491695.2:c.2098T>C ENSP00000494626.2:p.Ser700Pro
ENST00000674381.2:c.*7182T>C ENSP00000501536.2:n.*7182T>C
ENST00000679448.1:c.7429T>C ENSP00000505889.1:p.Ser2477Pro
ENST00000679457.1:c.7429T>C ENSP00000505450.1:p.Ser2477Pro
ENST00000679474.1:n.7651T>C
ENST00000679521.1:c.7399T>C ENSP00000505456.1:p.Ser2467Pro
ENST00000679554.1:c.*7238T>C ENSP00000506415.1:n.*7238T>C
ENST00000679722.1:n.7675T>C
ENST00000679821.1:c.7195T>C ENSP00000506040.1:p.Ser2399Pro
ENST00000680047.1:n.7651T>C
ENST00000680072.1:c.7276T>C ENSP00000506581.1:p.Ser2426Pro
ENST00000680181.1:c.7360T>C ENSP00000505548.1:p.Ser2454Pro
ENST00000680365.1:c.946T>C ENSP00000506019.1:p.Ser316Pro
ENST00000680513.1:c.7312T>C ENSP00000505284.1:p.Ser2438Pro
ENST00000680534.1:c.7492T>C ENSP00000506674.1:p.Ser2498Pro
ENST00000680766.1:c.7429T>C ENSP00000505204.1:p.Ser2477Pro
ENST00000680952.1:c.7429T>C ENSP00000506407.1:p.Ser2477Pro
ENST00000681216.1:c.946T>C ENSP00000505551.1:p.Ser316Pro
ENST00000681412.1:c.7453T>C ENSP00000506486.1:p.Ser2485Pro
ENST00000681722.1:c.7429T>C ENSP00000506566.1:p.Ser2477Pro
XM_006715827.1:c.7312T>C XP_006715890.1:p.Ser2438Pro
XM_011515709.1:c.7600T>C XP_011514011.1:p.Ser2534Pro
XM_011515710.1:c.7624T>C XP_011514012.1:p.Ser2542Pro
XM_011515711.1:c.7564T>C XP_011514013.1:p.Ser2522Pro
XM_011515712.1:c.7561T>C XP_011514014.1:p.Ser2521Pro
XM_011515713.1:c.7546T>C XP_011514015.1:p.Ser2516Pro
XM_011515714.1:c.7585T>C XP_011514016.1:p.Ser2529Pro
XM_011515716.1:c.7504T>C XP_011514018.1:p.Ser2502Pro
XM_011515717.1:c.7459T>C XP_011514019.1:p.Ser2487Pro
XM_011515718.1:c.7489T>C XP_011514020.1:p.Ser2497Pro
XM_011515719.1:c.7465T>C XP_011514021.1:p.Ser2489Pro
XM_011515720.1:c.7348T>C XP_011514022.1:p.Ser2450Pro
XM_011515721.1:c.2113T>C XP_011514023.1:p.Ser705Pro
XM_011515722.1:c.2074T>C XP_011514024.1:p.Ser692Pro
XM_017011642.2:c.7588T>C XP_016867131.1:p.Ser2530Pro
XM_017011643.2:c.7549T>C XP_016867132.1:p.Ser2517Pro
XM_017011644.2:c.7588T>C XP_016867133.1:p.Ser2530Pro
XM_017011645.2:c.7534T>C XP_016867134.1:p.Ser2512Pro
XM_017011646.2:c.7549T>C XP_016867135.1:p.Ser2517Pro
XM_017011647.2:c.7495T>C XP_016867136.1:p.Ser2499Pro
XM_017011648.2:c.7492T>C XP_016867137.1:p.Ser2498Pro
XM_017011649.2:c.7525T>C XP_016867138.1:p.Ser2509Pro
XM_017011650.2:c.7453T>C XP_016867139.1:p.Ser2485Pro
XM_017011651.2:c.7447T>C XP_016867140.1:p.Ser2483Pro
XM_017011652.2:c.7588T>C XP_016867141.1:p.Ser2530Pro
XM_017011653.2:c.7360T>C XP_016867142.1:p.Ser2454Pro
XM_017011654.2:c.7312T>C XP_016867143.1:p.Ser2438Pro
XM_017011655.2:c.7216T>C XP_016867144.1:p.Ser2406Pro
XM_017011656.2:c.7216T>C XP_016867145.1:p.Ser2406Pro
XM_017011657.2:c.3253T>C XP_016867146.1:p.Ser1085Pro
XM_017011658.2:c.2137T>C XP_016867147.1:p.Ser713Pro
XM_017011659.2:c.2098T>C XP_016867148.1:p.Ser700Pro
XM_017011660.2:c.2098T>C XP_016867149.1:p.Ser700Pro
XM_024446631.1:c.7351T>C XP_024302399.1:p.Ser2451Pro