Canonical Allele Identifier: CA161907723
Community Standard Title: NM_005751.5(AKAP9):c.2227C>A (p.Gln743Lys)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92002144C>A , CM000669.2:g.92002144C>A GRCh38
NC_000007.13:g.91631458C>A , CM000669.1:g.91631458C>A GRCh37
NC_000007.12:g.91469394C>A NCBI36
NG_011623.1:g.66270C>A , LRG_331:g.66270C>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.2227C>A MANE Select NP_005742.4:p.Gln743Lys
ENST00000356239.8:c.2227C>A MANE Select ENSP00000348573.3:p.Gln743Lys
NM_005751.4:c.2227C>A , LRG_331t1:c.2227C>A NP_005742.4:p.Gln743Lys
NM_147185.2:c.2227C>A NP_671714.1:p.Gln743Lys
NM_147185.3:c.2227C>A NP_671714.1:p.Gln743Lys
ENST00000356239.7:c.2227C>A ENSP00000348573.3:p.Gln743Lys
ENST00000358100.6:c.2227C>A ENSP00000350813.3:p.Gln743Lys
ENST00000359028.6:c.2260C>A ENSP00000351922.3:p.Gln754Lys
ENST00000359028.7:c.2227C>A ENSP00000351922.4:p.Gln743Lys
ENST00000493453.1:n.2447C>A
ENST00000619023.4:c.2251C>A ENSP00000480807.1:p.Gln751Lys
ENST00000674381.2:c.*1956C>A ENSP00000501536.2:n.*1956C>A
ENST00000679448.1:c.2227C>A ENSP00000505889.1:p.Gln743Lys
ENST00000679457.1:c.2227C>A ENSP00000505450.1:p.Gln743Lys
ENST00000679474.1:n.2449C>A
ENST00000679521.1:c.2173C>A ENSP00000505456.1:p.Gln725Lys
ENST00000679554.1:c.*2012C>A ENSP00000506415.1:n.*2012C>A
ENST00000679722.1:n.2449C>A
ENST00000679821.1:c.1969C>A ENSP00000506040.1:p.Gln657Lys
ENST00000680047.1:n.2449C>A
ENST00000680072.1:c.2227C>A ENSP00000506581.1:p.Gln743Lys
ENST00000680074.1:n.2449C>A
ENST00000680181.1:c.2227C>A ENSP00000505548.1:p.Gln743Lys
ENST00000680513.1:c.2227C>A ENSP00000505284.1:p.Gln743Lys
ENST00000680534.1:c.2227C>A ENSP00000506674.1:p.Gln743Lys
ENST00000680766.1:c.2227C>A ENSP00000505204.1:p.Gln743Lys
ENST00000680952.1:c.2227C>A ENSP00000506407.1:p.Gln743Lys
ENST00000681412.1:c.2227C>A ENSP00000506486.1:p.Gln743Lys
ENST00000681722.1:c.2227C>A ENSP00000506566.1:p.Gln743Lys
XM_006715827.1:c.2227C>A XP_006715890.1:p.Gln743Lys
XM_011515709.1:c.2263C>A XP_011514011.1:p.Gln755Lys
XM_011515710.1:c.2263C>A XP_011514012.1:p.Gln755Lys
XM_011515711.1:c.2227C>A XP_011514013.1:p.Gln743Lys
XM_011515712.1:c.2263C>A XP_011514014.1:p.Gln755Lys
XM_011515713.1:c.2209C>A XP_011514015.1:p.Gln737Lys
XM_011515714.1:c.2263C>A XP_011514016.1:p.Gln755Lys
XM_011515716.1:c.2263C>A XP_011514018.1:p.Gln755Lys
XM_011515717.1:c.2263C>A XP_011514019.1:p.Gln755Lys
XM_011515718.1:c.2263C>A XP_011514020.1:p.Gln755Lys
XM_011515719.1:c.2263C>A XP_011514021.1:p.Gln755Lys
XM_011515720.1:c.2263C>A XP_011514022.1:p.Gln755Lys
XM_017011642.2:c.2227C>A XP_016867131.1:p.Gln743Lys
XM_017011643.2:c.2227C>A XP_016867132.1:p.Gln743Lys
XM_017011644.2:c.2227C>A XP_016867133.1:p.Gln743Lys
XM_017011645.2:c.2173C>A XP_016867134.1:p.Gln725Lys
XM_017011646.2:c.2227C>A XP_016867135.1:p.Gln743Lys
XM_017011647.2:c.2227C>A XP_016867136.1:p.Gln743Lys
XM_017011648.2:c.2227C>A XP_016867137.1:p.Gln743Lys
XM_017011649.2:c.2227C>A XP_016867138.1:p.Gln743Lys
XM_017011650.2:c.2227C>A XP_016867139.1:p.Gln743Lys
XM_017011651.2:c.2227C>A XP_016867140.1:p.Gln743Lys
XM_017011652.2:c.2227C>A XP_016867141.1:p.Gln743Lys
XM_017011653.2:c.2227C>A XP_016867142.1:p.Gln743Lys
XM_017011654.2:c.2227C>A XP_016867143.1:p.Gln743Lys
XM_017011655.2:c.1855C>A XP_016867144.1:p.Gln619Lys
XM_017011656.2:c.1855C>A XP_016867145.1:p.Gln619Lys
XM_024446631.1:c.2227C>A XP_024302399.1:p.Gln743Lys