Canonical Allele Identifier: CA339149
Gene: AKAP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 216635
dbSNP Id: rs373876340
gnomAD v2: 7-91630627-C-T
gnomAD v3: 7-92001313-C-T
gnomAD v4: 7-92001313-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92001313C>T , CM000669.2:g.92001313C>T GRCh38
NC_000007.13:g.91630627C>T , CM000669.1:g.91630627C>T GRCh37
NC_000007.12:g.91468563C>T NCBI36
NG_011623.1:g.65439C>T , LRG_331:g.65439C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356239.8:c.1396C>T MANE Select ENSP00000348573.3:p.Arg466Trp
ENST00000359028.7:c.1396C>T ENSP00000351922.4:p.Arg466Trp
ENST00000674381.2:c.*1125C>T ENSP00000501536.2:n.*1125C>T
ENST00000679448.1:c.1396C>T ENSP00000505889.1:p.Arg466Trp
ENST00000679457.1:c.1396C>T ENSP00000505450.1:p.Arg466Trp
ENST00000679474.1:n.1618C>T
ENST00000679521.1:c.1342C>T ENSP00000505456.1:p.Arg448Trp
ENST00000679554.1:c.*1181C>T ENSP00000506415.1:n.*1181C>T
ENST00000679722.1:n.1618C>T
ENST00000679821.1:c.1138C>T ENSP00000506040.1:p.Arg380Trp
ENST00000680047.1:n.1618C>T
ENST00000680072.1:c.1396C>T ENSP00000506581.1:p.Arg466Trp
ENST00000680074.1:n.1618C>T
ENST00000680181.1:c.1396C>T ENSP00000505548.1:p.Arg466Trp
ENST00000680513.1:c.1396C>T ENSP00000505284.1:p.Arg466Trp
ENST00000680534.1:c.1396C>T ENSP00000506674.1:p.Arg466Trp
ENST00000680766.1:c.1396C>T ENSP00000505204.1:p.Arg466Trp
ENST00000680952.1:c.1396C>T ENSP00000506407.1:p.Arg466Trp
ENST00000681412.1:c.1396C>T ENSP00000506486.1:p.Arg466Trp
ENST00000681722.1:c.1396C>T ENSP00000506566.1:p.Arg466Trp
ENST00000356239.7:c.1396C>T ENSP00000348573.3:p.Arg466Trp
ENST00000358100.6:c.1396C>T ENSP00000350813.3:p.Arg466Trp
ENST00000359028.6:c.1429C>T ENSP00000351922.3:p.Arg477Trp
ENST00000493453.1:n.1616C>T
ENST00000619023.4:c.1420C>T ENSP00000480807.1:p.Arg474Trp
NM_005751.4:c.1396C>T , LRG_331t1:c.1396C>T NP_005742.4:p.Arg466Trp
NM_147185.2:c.1396C>T NP_671714.1:p.Arg466Trp
XM_006715827.1:c.1396C>T XP_006715890.1:p.Arg466Trp
XM_011515709.1:c.1432C>T XP_011514011.1:p.Arg478Trp
XM_011515710.1:c.1432C>T XP_011514012.1:p.Arg478Trp
XM_011515711.1:c.1396C>T XP_011514013.1:p.Arg466Trp
XM_011515712.1:c.1432C>T XP_011514014.1:p.Arg478Trp
XM_011515713.1:c.1378C>T XP_011514015.1:p.Arg460Trp
XM_011515714.1:c.1432C>T XP_011514016.1:p.Arg478Trp
XM_011515716.1:c.1432C>T XP_011514018.1:p.Arg478Trp
XM_011515717.1:c.1432C>T XP_011514019.1:p.Arg478Trp
XM_011515718.1:c.1432C>T XP_011514020.1:p.Arg478Trp
XM_011515719.1:c.1432C>T XP_011514021.1:p.Arg478Trp
XM_011515720.1:c.1432C>T XP_011514022.1:p.Arg478Trp
XM_017011642.2:c.1396C>T XP_016867131.1:p.Arg466Trp
XM_017011643.2:c.1396C>T XP_016867132.1:p.Arg466Trp
XM_017011644.2:c.1396C>T XP_016867133.1:p.Arg466Trp
XM_017011645.2:c.1342C>T XP_016867134.1:p.Arg448Trp
XM_017011646.2:c.1396C>T XP_016867135.1:p.Arg466Trp
XM_017011647.2:c.1396C>T XP_016867136.1:p.Arg466Trp
XM_017011648.2:c.1396C>T XP_016867137.1:p.Arg466Trp
XM_017011649.2:c.1396C>T XP_016867138.1:p.Arg466Trp
XM_017011650.2:c.1396C>T XP_016867139.1:p.Arg466Trp
XM_017011651.2:c.1396C>T XP_016867140.1:p.Arg466Trp
XM_017011652.2:c.1396C>T XP_016867141.1:p.Arg466Trp
XM_017011653.2:c.1396C>T XP_016867142.1:p.Arg466Trp
XM_017011654.2:c.1396C>T XP_016867143.1:p.Arg466Trp
XM_017011655.2:c.1024C>T XP_016867144.1:p.Arg342Trp
XM_017011656.2:c.1024C>T XP_016867145.1:p.Arg342Trp
XM_024446631.1:c.1396C>T XP_024302399.1:p.Arg466Trp
NM_147185.3:c.1396C>T NP_671714.1:p.Arg466Trp
NM_005751.5:c.1396C>T MANE Select NP_005742.4:p.Arg466Trp