Canonical Allele Identifier: CA4337010
Community Standard Title: NM_005751.5(AKAP9):c.6195G>A (p.Met2065Ile)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92065448G>A , CM000669.2:g.92065448G>A GRCh38
NC_000007.13:g.91694762G>A , CM000669.1:g.91694762G>A GRCh37
NC_000007.12:g.91532698G>A NCBI36
NG_011623.1:g.129574G>A , LRG_331:g.129574G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.6195G>A MANE Select NP_005742.4:p.Met2065Ile
ENST00000356239.8:c.6195G>A MANE Select ENSP00000348573.3:p.Met2065Ile
NM_001379277.1:c.840G>A NP_001366206.1:p.Met280Ile
NM_005751.4:c.6195G>A , LRG_331t1:c.6195G>A NP_005742.4:p.Met2065Ile
NM_147185.2:c.6195G>A NP_671714.1:p.Met2065Ile
NM_147185.3:c.6195G>A NP_671714.1:p.Met2065Ile
ENST00000356239.7:c.6195G>A ENSP00000348573.3:p.Met2065Ile
ENST00000358100.6:c.6054G>A ENSP00000350813.3:p.Met2018Ile
ENST00000359028.6:c.6228G>A ENSP00000351922.3:p.Met2076Ile
ENST00000359028.7:c.6291G>A ENSP00000351922.4:p.Met2097Ile
ENST00000491695.1:n.1383G>A
ENST00000491695.2:c.840G>A ENSP00000494626.2:p.Met280Ile
ENST00000674381.2:c.*5924G>A ENSP00000501536.2:n.*5924G>A
ENST00000679448.1:c.6195G>A ENSP00000505889.1:p.Met2065Ile
ENST00000679457.1:c.6195G>A ENSP00000505450.1:p.Met2065Ile
ENST00000679474.1:n.6417G>A
ENST00000679521.1:c.6141G>A ENSP00000505456.1:p.Met2047Ile
ENST00000679554.1:c.*5980G>A ENSP00000506415.1:n.*5980G>A
ENST00000679722.1:n.6417G>A
ENST00000679821.1:c.5937G>A ENSP00000506040.1:p.Met1979Ile
ENST00000680047.1:n.6417G>A
ENST00000680072.1:c.6195G>A ENSP00000506581.1:p.Met2065Ile
ENST00000680074.1:n.9161G>A
ENST00000680181.1:c.6102G>A ENSP00000505548.1:p.Met2034Ile
ENST00000680513.1:c.6054G>A ENSP00000505284.1:p.Met2018Ile
ENST00000680534.1:c.6234G>A ENSP00000506674.1:p.Met2078Ile
ENST00000680766.1:c.6195G>A ENSP00000505204.1:p.Met2065Ile
ENST00000680952.1:c.6195G>A ENSP00000506407.1:p.Met2065Ile
ENST00000681412.1:c.6195G>A ENSP00000506486.1:p.Met2065Ile
ENST00000681722.1:c.6195G>A ENSP00000506566.1:p.Met2065Ile
XM_006715827.1:c.6054G>A XP_006715890.1:p.Met2018Ile
XM_011515709.1:c.6366G>A XP_011514011.1:p.Met2122Ile
XM_011515710.1:c.6366G>A XP_011514012.1:p.Met2122Ile
XM_011515711.1:c.6330G>A XP_011514013.1:p.Met2110Ile
XM_011515712.1:c.6327G>A XP_011514014.1:p.Met2109Ile
XM_011515713.1:c.6312G>A XP_011514015.1:p.Met2104Ile
XM_011515714.1:c.6327G>A XP_011514016.1:p.Met2109Ile
XM_011515716.1:c.6270G>A XP_011514018.1:p.Met2090Ile
XM_011515717.1:c.6225G>A XP_011514019.1:p.Met2075Ile
XM_011515718.1:c.6231G>A XP_011514020.1:p.Met2077Ile
XM_011515719.1:c.6231G>A XP_011514021.1:p.Met2077Ile
XM_011515720.1:c.6090G>A XP_011514022.1:p.Met2030Ile
XM_011515721.1:c.879G>A XP_011514023.1:p.Met293Ile
XM_011515722.1:c.840G>A XP_011514024.1:p.Met280Ile
XM_017011642.2:c.6330G>A XP_016867131.1:p.Met2110Ile
XM_017011643.2:c.6291G>A XP_016867132.1:p.Met2097Ile
XM_017011644.2:c.6330G>A XP_016867133.1:p.Met2110Ile
XM_017011645.2:c.6276G>A XP_016867134.1:p.Met2092Ile
XM_017011646.2:c.6291G>A XP_016867135.1:p.Met2097Ile
XM_017011647.2:c.6237G>A XP_016867136.1:p.Met2079Ile
XM_017011648.2:c.6234G>A XP_016867137.1:p.Met2078Ile
XM_017011649.2:c.6291G>A XP_016867138.1:p.Met2097Ile
XM_017011650.2:c.6195G>A XP_016867139.1:p.Met2065Ile
XM_017011651.2:c.6189G>A XP_016867140.1:p.Met2063Ile
XM_017011652.2:c.6330G>A XP_016867141.1:p.Met2110Ile
XM_017011653.2:c.6102G>A XP_016867142.1:p.Met2034Ile
XM_017011654.2:c.6054G>A XP_016867143.1:p.Met2018Ile
XM_017011655.2:c.5958G>A XP_016867144.1:p.Met1986Ile
XM_017011656.2:c.5958G>A XP_016867145.1:p.Met1986Ile
XM_017011657.2:c.1995G>A XP_016867146.1:p.Met665Ile
XM_017011658.2:c.879G>A XP_016867147.1:p.Met293Ile
XM_017011659.2:c.840G>A XP_016867148.1:p.Met280Ile
XM_017011660.2:c.840G>A XP_016867149.1:p.Met280Ile
XM_024446631.1:c.6093G>A XP_024302399.1:p.Met2031Ile