Canonical Allele Identifier: CA368135780
Community Standard Title: NM_005751.5(AKAP9):c.7459G>C (p.Glu2487Gln)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92079592G>C , CM000669.2:g.92079592G>C GRCh38
NC_000007.13:g.91708906G>C , CM000669.1:g.91708906G>C GRCh37
NC_000007.12:g.91546842G>C NCBI36
NG_011623.1:g.143718G>C , LRG_331:g.143718G>C

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.7459G>C MANE Select NP_005742.4:p.Glu2487Gln
ENST00000356239.8:c.7459G>C MANE Select ENSP00000348573.3:p.Glu2487Gln
NM_001379277.1:c.2104G>C NP_001366206.1:p.Glu702Gln
NM_005751.4:c.7459G>C , LRG_331t1:c.7459G>C NP_005742.4:p.Glu2487Gln
NM_147185.2:c.7435G>C NP_671714.1:p.Glu2479Gln
NM_147185.3:c.7435G>C NP_671714.1:p.Glu2479Gln
ENST00000356239.7:c.7459G>C ENSP00000348573.3:p.Glu2487Gln
ENST00000358100.6:c.7318G>C ENSP00000350813.3:p.Glu2440Gln
ENST00000359028.6:c.7492G>C ENSP00000351922.3:p.Glu2498Gln
ENST00000359028.7:c.7531G>C ENSP00000351922.4:p.Glu2511Gln
ENST00000394534.6:c.997G>C ENSP00000378042.2:p.Glu333Gln
ENST00000394534.7:c.952G>C ENSP00000378042.3:p.Glu318Gln
ENST00000491695.2:c.2104G>C ENSP00000494626.2:p.Glu702Gln
ENST00000674381.2:c.*7188G>C ENSP00000501536.2:n.*7188G>C
ENST00000679448.1:c.7435G>C ENSP00000505889.1:p.Glu2479Gln
ENST00000679457.1:c.7435G>C ENSP00000505450.1:p.Glu2479Gln
ENST00000679474.1:n.7657G>C
ENST00000679521.1:c.7405G>C ENSP00000505456.1:p.Glu2469Gln
ENST00000679554.1:c.*7244G>C ENSP00000506415.1:n.*7244G>C
ENST00000679722.1:n.7681G>C
ENST00000679821.1:c.7201G>C ENSP00000506040.1:p.Glu2401Gln
ENST00000680047.1:n.7657G>C
ENST00000680072.1:c.7282G>C ENSP00000506581.1:p.Glu2428Gln
ENST00000680181.1:c.7366G>C ENSP00000505548.1:p.Glu2456Gln
ENST00000680365.1:c.952G>C ENSP00000506019.1:p.Glu318Gln
ENST00000680513.1:c.7318G>C ENSP00000505284.1:p.Glu2440Gln
ENST00000680534.1:c.7498G>C ENSP00000506674.1:p.Glu2500Gln
ENST00000680766.1:c.7435G>C ENSP00000505204.1:p.Glu2479Gln
ENST00000680952.1:c.7435G>C ENSP00000506407.1:p.Glu2479Gln
ENST00000681216.1:c.952G>C ENSP00000505551.1:p.Glu318Gln
ENST00000681412.1:c.7459G>C ENSP00000506486.1:p.Glu2487Gln
ENST00000681722.1:c.7435G>C ENSP00000506566.1:p.Glu2479Gln
XM_006715827.1:c.7318G>C XP_006715890.1:p.Glu2440Gln
XM_011515709.1:c.7606G>C XP_011514011.1:p.Glu2536Gln
XM_011515710.1:c.7630G>C XP_011514012.1:p.Glu2544Gln
XM_011515711.1:c.7570G>C XP_011514013.1:p.Glu2524Gln
XM_011515712.1:c.7567G>C XP_011514014.1:p.Glu2523Gln
XM_011515713.1:c.7552G>C XP_011514015.1:p.Glu2518Gln
XM_011515714.1:c.7591G>C XP_011514016.1:p.Glu2531Gln
XM_011515716.1:c.7510G>C XP_011514018.1:p.Glu2504Gln
XM_011515717.1:c.7465G>C XP_011514019.1:p.Glu2489Gln
XM_011515718.1:c.7495G>C XP_011514020.1:p.Glu2499Gln
XM_011515719.1:c.7471G>C XP_011514021.1:p.Glu2491Gln
XM_011515720.1:c.7354G>C XP_011514022.1:p.Glu2452Gln
XM_011515721.1:c.2119G>C XP_011514023.1:p.Glu707Gln
XM_011515722.1:c.2080G>C XP_011514024.1:p.Glu694Gln
XM_017011642.2:c.7594G>C XP_016867131.1:p.Glu2532Gln
XM_017011643.2:c.7555G>C XP_016867132.1:p.Glu2519Gln
XM_017011644.2:c.7594G>C XP_016867133.1:p.Glu2532Gln
XM_017011645.2:c.7540G>C XP_016867134.1:p.Glu2514Gln
XM_017011646.2:c.7555G>C XP_016867135.1:p.Glu2519Gln
XM_017011647.2:c.7501G>C XP_016867136.1:p.Glu2501Gln
XM_017011648.2:c.7498G>C XP_016867137.1:p.Glu2500Gln
XM_017011649.2:c.7531G>C XP_016867138.1:p.Glu2511Gln
XM_017011650.2:c.7459G>C XP_016867139.1:p.Glu2487Gln
XM_017011651.2:c.7453G>C XP_016867140.1:p.Glu2485Gln
XM_017011652.2:c.7594G>C XP_016867141.1:p.Glu2532Gln
XM_017011653.2:c.7366G>C XP_016867142.1:p.Glu2456Gln
XM_017011654.2:c.7318G>C XP_016867143.1:p.Glu2440Gln
XM_017011655.2:c.7222G>C XP_016867144.1:p.Glu2408Gln
XM_017011656.2:c.7222G>C XP_016867145.1:p.Glu2408Gln
XM_017011657.2:c.3259G>C XP_016867146.1:p.Glu1087Gln
XM_017011658.2:c.2143G>C XP_016867147.1:p.Glu715Gln
XM_017011659.2:c.2104G>C XP_016867148.1:p.Glu702Gln
XM_017011660.2:c.2104G>C XP_016867149.1:p.Glu702Gln
XM_024446631.1:c.7357G>C XP_024302399.1:p.Glu2453Gln