Canonical Allele Identifier: CA4337108
Community Standard Title: NM_005751.5(AKAP9):c.6518G>A (p.Arg2173Gln)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92070915G>A , CM000669.2:g.92070915G>A GRCh38
NC_000007.13:g.91700229G>A , CM000669.1:g.91700229G>A GRCh37
NC_000007.12:g.91538165G>A NCBI36
NG_011623.1:g.135041G>A , LRG_331:g.135041G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.6518G>A MANE Select NP_005742.4:p.Arg2173Gln
ENST00000356239.8:c.6518G>A MANE Select ENSP00000348573.3:p.Arg2173Gln
NM_001379277.1:c.1163G>A NP_001366206.1:p.Arg388Gln
NM_005751.4:c.6518G>A , LRG_331t1:c.6518G>A NP_005742.4:p.Arg2173Gln
NM_147185.2:c.6494G>A NP_671714.1:p.Arg2165Gln
NM_147185.3:c.6494G>A NP_671714.1:p.Arg2165Gln
ENST00000356239.7:c.6518G>A ENSP00000348573.3:p.Arg2173Gln
ENST00000358100.6:c.6377G>A ENSP00000350813.3:p.Arg2126Gln
ENST00000359028.6:c.6551G>A ENSP00000351922.3:p.Arg2184Gln
ENST00000359028.7:c.6590G>A ENSP00000351922.4:p.Arg2197Gln
ENST00000394534.6:c.56G>A ENSP00000378042.2:p.Arg19Gln
ENST00000394534.7:c.11G>A ENSP00000378042.3:p.Arg4Gln
ENST00000491695.2:c.1163G>A ENSP00000494626.2:p.Arg388Gln
ENST00000674381.2:c.*6247G>A ENSP00000501536.2:n.*6247G>A
ENST00000679448.1:c.6494G>A ENSP00000505889.1:p.Arg2165Gln
ENST00000679457.1:c.6494G>A ENSP00000505450.1:p.Arg2165Gln
ENST00000679474.1:n.6716G>A
ENST00000679521.1:c.6464G>A ENSP00000505456.1:p.Arg2155Gln
ENST00000679554.1:c.*6303G>A ENSP00000506415.1:n.*6303G>A
ENST00000679722.1:n.6740G>A
ENST00000679821.1:c.6260G>A ENSP00000506040.1:p.Arg2087Gln
ENST00000680047.1:n.6716G>A
ENST00000680072.1:c.6341G>A ENSP00000506581.1:p.Arg2114Gln
ENST00000680181.1:c.6425G>A ENSP00000505548.1:p.Arg2142Gln
ENST00000680365.1:c.11G>A ENSP00000506019.1:p.Arg4Gln
ENST00000680513.1:c.6377G>A ENSP00000505284.1:p.Arg2126Gln
ENST00000680534.1:c.6557G>A ENSP00000506674.1:p.Arg2186Gln
ENST00000680766.1:c.6494G>A ENSP00000505204.1:p.Arg2165Gln
ENST00000680952.1:c.6494G>A ENSP00000506407.1:p.Arg2165Gln
ENST00000681216.1:c.11G>A ENSP00000505551.1:p.Arg4Gln
ENST00000681412.1:c.6518G>A ENSP00000506486.1:p.Arg2173Gln
ENST00000681722.1:c.6494G>A ENSP00000506566.1:p.Arg2165Gln
XM_006715827.1:c.6377G>A XP_006715890.1:p.Arg2126Gln
XM_011515709.1:c.6665G>A XP_011514011.1:p.Arg2222Gln
XM_011515710.1:c.6689G>A XP_011514012.1:p.Arg2230Gln
XM_011515711.1:c.6629G>A XP_011514013.1:p.Arg2210Gln
XM_011515712.1:c.6626G>A XP_011514014.1:p.Arg2209Gln
XM_011515713.1:c.6611G>A XP_011514015.1:p.Arg2204Gln
XM_011515714.1:c.6650G>A XP_011514016.1:p.Arg2217Gln
XM_011515716.1:c.6569G>A XP_011514018.1:p.Arg2190Gln
XM_011515717.1:c.6524G>A XP_011514019.1:p.Arg2175Gln
XM_011515718.1:c.6554G>A XP_011514020.1:p.Arg2185Gln
XM_011515719.1:c.6530G>A XP_011514021.1:p.Arg2177Gln
XM_011515720.1:c.6413G>A XP_011514022.1:p.Arg2138Gln
XM_011515721.1:c.1178G>A XP_011514023.1:p.Arg393Gln
XM_011515722.1:c.1139G>A XP_011514024.1:p.Arg380Gln
XM_017011642.2:c.6653G>A XP_016867131.1:p.Arg2218Gln
XM_017011643.2:c.6614G>A XP_016867132.1:p.Arg2205Gln
XM_017011644.2:c.6653G>A XP_016867133.1:p.Arg2218Gln
XM_017011645.2:c.6599G>A XP_016867134.1:p.Arg2200Gln
XM_017011646.2:c.6614G>A XP_016867135.1:p.Arg2205Gln
XM_017011647.2:c.6560G>A XP_016867136.1:p.Arg2187Gln
XM_017011648.2:c.6557G>A XP_016867137.1:p.Arg2186Gln
XM_017011649.2:c.6590G>A XP_016867138.1:p.Arg2197Gln
XM_017011650.2:c.6518G>A XP_016867139.1:p.Arg2173Gln
XM_017011651.2:c.6512G>A XP_016867140.1:p.Arg2171Gln
XM_017011652.2:c.6653G>A XP_016867141.1:p.Arg2218Gln
XM_017011653.2:c.6425G>A XP_016867142.1:p.Arg2142Gln
XM_017011654.2:c.6377G>A XP_016867143.1:p.Arg2126Gln
XM_017011655.2:c.6281G>A XP_016867144.1:p.Arg2094Gln
XM_017011656.2:c.6281G>A XP_016867145.1:p.Arg2094Gln
XM_017011657.2:c.2318G>A XP_016867146.1:p.Arg773Gln
XM_017011658.2:c.1202G>A XP_016867147.1:p.Arg401Gln
XM_017011659.2:c.1163G>A XP_016867148.1:p.Arg388Gln
XM_017011660.2:c.1163G>A XP_016867149.1:p.Arg388Gln
XM_024446631.1:c.6416G>A XP_024302399.1:p.Arg2139Gln