Canonical Allele Identifier: CA4337233
Community Standard Title: NM_005751.5(AKAP9):c.7114A>G (p.Met2372Val)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92079247A>G , CM000669.2:g.92079247A>G GRCh38
NC_000007.13:g.91708561A>G , CM000669.1:g.91708561A>G GRCh37
NC_000007.12:g.91546497A>G NCBI36
NG_011623.1:g.143373A>G , LRG_331:g.143373A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.7114A>G MANE Select NP_005742.4:p.Met2372Val
ENST00000356239.8:c.7114A>G MANE Select ENSP00000348573.3:p.Met2372Val
NM_001379277.1:c.1759A>G NP_001366206.1:p.Met587Val
NM_005751.4:c.7114A>G , LRG_331t1:c.7114A>G NP_005742.4:p.Met2372Val
NM_147185.2:c.7090A>G NP_671714.1:p.Met2364Val
NM_147185.3:c.7090A>G NP_671714.1:p.Met2364Val
ENST00000356239.7:c.7114A>G ENSP00000348573.3:p.Met2372Val
ENST00000358100.6:c.6973A>G ENSP00000350813.3:p.Met2325Val
ENST00000359028.6:c.7147A>G ENSP00000351922.3:p.Met2383Val
ENST00000359028.7:c.7186A>G ENSP00000351922.4:p.Met2396Val
ENST00000394534.6:c.652A>G ENSP00000378042.2:p.Met218Val
ENST00000394534.7:c.607A>G ENSP00000378042.3:p.Met203Val
ENST00000491695.2:c.1759A>G ENSP00000494626.2:p.Met587Val
ENST00000674381.2:c.*6843A>G ENSP00000501536.2:n.*6843A>G
ENST00000679448.1:c.7090A>G ENSP00000505889.1:p.Met2364Val
ENST00000679457.1:c.7090A>G ENSP00000505450.1:p.Met2364Val
ENST00000679474.1:n.7312A>G
ENST00000679521.1:c.7060A>G ENSP00000505456.1:p.Met2354Val
ENST00000679554.1:c.*6899A>G ENSP00000506415.1:n.*6899A>G
ENST00000679722.1:n.7336A>G
ENST00000679821.1:c.6856A>G ENSP00000506040.1:p.Met2286Val
ENST00000680047.1:n.7312A>G
ENST00000680072.1:c.6937A>G ENSP00000506581.1:p.Met2313Val
ENST00000680181.1:c.7021A>G ENSP00000505548.1:p.Met2341Val
ENST00000680365.1:c.607A>G ENSP00000506019.1:p.Met203Val
ENST00000680513.1:c.6973A>G ENSP00000505284.1:p.Met2325Val
ENST00000680534.1:c.7153A>G ENSP00000506674.1:p.Met2385Val
ENST00000680766.1:c.7090A>G ENSP00000505204.1:p.Met2364Val
ENST00000680952.1:c.7090A>G ENSP00000506407.1:p.Met2364Val
ENST00000681216.1:c.607A>G ENSP00000505551.1:p.Met203Val
ENST00000681412.1:c.7114A>G ENSP00000506486.1:p.Met2372Val
ENST00000681722.1:c.7090A>G ENSP00000506566.1:p.Met2364Val
XM_006715827.1:c.6973A>G XP_006715890.1:p.Met2325Val
XM_011515709.1:c.7261A>G XP_011514011.1:p.Met2421Val
XM_011515710.1:c.7285A>G XP_011514012.1:p.Met2429Val
XM_011515711.1:c.7225A>G XP_011514013.1:p.Met2409Val
XM_011515712.1:c.7222A>G XP_011514014.1:p.Met2408Val
XM_011515713.1:c.7207A>G XP_011514015.1:p.Met2403Val
XM_011515714.1:c.7246A>G XP_011514016.1:p.Met2416Val
XM_011515716.1:c.7165A>G XP_011514018.1:p.Met2389Val
XM_011515717.1:c.7120A>G XP_011514019.1:p.Met2374Val
XM_011515718.1:c.7150A>G XP_011514020.1:p.Met2384Val
XM_011515719.1:c.7126A>G XP_011514021.1:p.Met2376Val
XM_011515720.1:c.7009A>G XP_011514022.1:p.Met2337Val
XM_011515721.1:c.1774A>G XP_011514023.1:p.Met592Val
XM_011515722.1:c.1735A>G XP_011514024.1:p.Met579Val
XM_017011642.2:c.7249A>G XP_016867131.1:p.Met2417Val
XM_017011643.2:c.7210A>G XP_016867132.1:p.Met2404Val
XM_017011644.2:c.7249A>G XP_016867133.1:p.Met2417Val
XM_017011645.2:c.7195A>G XP_016867134.1:p.Met2399Val
XM_017011646.2:c.7210A>G XP_016867135.1:p.Met2404Val
XM_017011647.2:c.7156A>G XP_016867136.1:p.Met2386Val
XM_017011648.2:c.7153A>G XP_016867137.1:p.Met2385Val
XM_017011649.2:c.7186A>G XP_016867138.1:p.Met2396Val
XM_017011650.2:c.7114A>G XP_016867139.1:p.Met2372Val
XM_017011651.2:c.7108A>G XP_016867140.1:p.Met2370Val
XM_017011652.2:c.7249A>G XP_016867141.1:p.Met2417Val
XM_017011653.2:c.7021A>G XP_016867142.1:p.Met2341Val
XM_017011654.2:c.6973A>G XP_016867143.1:p.Met2325Val
XM_017011655.2:c.6877A>G XP_016867144.1:p.Met2293Val
XM_017011656.2:c.6877A>G XP_016867145.1:p.Met2293Val
XM_017011657.2:c.2914A>G XP_016867146.1:p.Met972Val
XM_017011658.2:c.1798A>G XP_016867147.1:p.Met600Val
XM_017011659.2:c.1759A>G XP_016867148.1:p.Met587Val
XM_017011660.2:c.1759A>G XP_016867149.1:p.Met587Val
XM_024446631.1:c.7012A>G XP_024302399.1:p.Met2338Val