Canonical Allele Identifier: CA368132717
Community Standard Title: NM_005751.5(AKAP9):c.6146T>C (p.Met2049Thr)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92065399T>C , CM000669.2:g.92065399T>C GRCh38
NC_000007.13:g.91694713T>C , CM000669.1:g.91694713T>C GRCh37
NC_000007.12:g.91532649T>C NCBI36
NG_011623.1:g.129525T>C , LRG_331:g.129525T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.6146T>C MANE Select NP_005742.4:p.Met2049Thr
ENST00000356239.8:c.6146T>C MANE Select ENSP00000348573.3:p.Met2049Thr
NM_001379277.1:c.791T>C NP_001366206.1:p.Met264Thr
NM_005751.4:c.6146T>C , LRG_331t1:c.6146T>C NP_005742.4:p.Met2049Thr
NM_147185.2:c.6146T>C NP_671714.1:p.Met2049Thr
NM_147185.3:c.6146T>C NP_671714.1:p.Met2049Thr
ENST00000356239.7:c.6146T>C ENSP00000348573.3:p.Met2049Thr
ENST00000358100.6:c.6005T>C ENSP00000350813.3:p.Met2002Thr
ENST00000359028.6:c.6179T>C ENSP00000351922.3:p.Met2060Thr
ENST00000359028.7:c.6242T>C ENSP00000351922.4:p.Met2081Thr
ENST00000491695.1:n.1334T>C
ENST00000491695.2:c.791T>C ENSP00000494626.2:p.Met264Thr
ENST00000674381.2:c.*5875T>C ENSP00000501536.2:n.*5875T>C
ENST00000679448.1:c.6146T>C ENSP00000505889.1:p.Met2049Thr
ENST00000679457.1:c.6146T>C ENSP00000505450.1:p.Met2049Thr
ENST00000679474.1:n.6368T>C
ENST00000679521.1:c.6092T>C ENSP00000505456.1:p.Met2031Thr
ENST00000679554.1:c.*5931T>C ENSP00000506415.1:n.*5931T>C
ENST00000679722.1:n.6368T>C
ENST00000679821.1:c.5888T>C ENSP00000506040.1:p.Met1963Thr
ENST00000680047.1:n.6368T>C
ENST00000680072.1:c.6146T>C ENSP00000506581.1:p.Met2049Thr
ENST00000680074.1:n.9112T>C
ENST00000680181.1:c.6053T>C ENSP00000505548.1:p.Met2018Thr
ENST00000680513.1:c.6005T>C ENSP00000505284.1:p.Met2002Thr
ENST00000680534.1:c.6185T>C ENSP00000506674.1:p.Met2062Thr
ENST00000680766.1:c.6146T>C ENSP00000505204.1:p.Met2049Thr
ENST00000680952.1:c.6146T>C ENSP00000506407.1:p.Met2049Thr
ENST00000681412.1:c.6146T>C ENSP00000506486.1:p.Met2049Thr
ENST00000681722.1:c.6146T>C ENSP00000506566.1:p.Met2049Thr
XM_006715827.1:c.6005T>C XP_006715890.1:p.Met2002Thr
XM_011515709.1:c.6317T>C XP_011514011.1:p.Met2106Thr
XM_011515710.1:c.6317T>C XP_011514012.1:p.Met2106Thr
XM_011515711.1:c.6281T>C XP_011514013.1:p.Met2094Thr
XM_011515712.1:c.6278T>C XP_011514014.1:p.Met2093Thr
XM_011515713.1:c.6263T>C XP_011514015.1:p.Met2088Thr
XM_011515714.1:c.6278T>C XP_011514016.1:p.Met2093Thr
XM_011515716.1:c.6221T>C XP_011514018.1:p.Met2074Thr
XM_011515717.1:c.6176T>C XP_011514019.1:p.Met2059Thr
XM_011515718.1:c.6182T>C XP_011514020.1:p.Met2061Thr
XM_011515719.1:c.6182T>C XP_011514021.1:p.Met2061Thr
XM_011515720.1:c.6041T>C XP_011514022.1:p.Met2014Thr
XM_011515721.1:c.830T>C XP_011514023.1:p.Met277Thr
XM_011515722.1:c.791T>C XP_011514024.1:p.Met264Thr
XM_017011642.2:c.6281T>C XP_016867131.1:p.Met2094Thr
XM_017011643.2:c.6242T>C XP_016867132.1:p.Met2081Thr
XM_017011644.2:c.6281T>C XP_016867133.1:p.Met2094Thr
XM_017011645.2:c.6227T>C XP_016867134.1:p.Met2076Thr
XM_017011646.2:c.6242T>C XP_016867135.1:p.Met2081Thr
XM_017011647.2:c.6188T>C XP_016867136.1:p.Met2063Thr
XM_017011648.2:c.6185T>C XP_016867137.1:p.Met2062Thr
XM_017011649.2:c.6242T>C XP_016867138.1:p.Met2081Thr
XM_017011650.2:c.6146T>C XP_016867139.1:p.Met2049Thr
XM_017011651.2:c.6140T>C XP_016867140.1:p.Met2047Thr
XM_017011652.2:c.6281T>C XP_016867141.1:p.Met2094Thr
XM_017011653.2:c.6053T>C XP_016867142.1:p.Met2018Thr
XM_017011654.2:c.6005T>C XP_016867143.1:p.Met2002Thr
XM_017011655.2:c.5909T>C XP_016867144.1:p.Met1970Thr
XM_017011656.2:c.5909T>C XP_016867145.1:p.Met1970Thr
XM_017011657.2:c.1946T>C XP_016867146.1:p.Met649Thr
XM_017011658.2:c.830T>C XP_016867147.1:p.Met277Thr
XM_017011659.2:c.791T>C XP_016867148.1:p.Met264Thr
XM_017011660.2:c.791T>C XP_016867149.1:p.Met264Thr
XM_024446631.1:c.6044T>C XP_024302399.1:p.Met2015Thr