Canonical Allele Identifier: CA368127414
Gene: AKAP9 HGNC NCBI

Linked Data

gnomAD v4: 7-92022259-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92022259G>A , CM000669.2:g.92022259G>A GRCh38
NC_000007.13:g.91651573G>A , CM000669.1:g.91651573G>A GRCh37
NC_000007.12:g.91489509G>A NCBI36
NG_011623.1:g.86385G>A , LRG_331:g.86385G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356239.8:c.3859G>A MANE Select ENSP00000348573.3:p.Gly1287Ser
ENST00000359028.7:c.3859G>A ENSP00000351922.4:p.Gly1287Ser
ENST00000674381.2:c.*3588G>A ENSP00000501536.2:n.*3588G>A
ENST00000679448.1:c.3859G>A ENSP00000505889.1:p.Gly1287Ser
ENST00000679457.1:c.3859G>A ENSP00000505450.1:p.Gly1287Ser
ENST00000679474.1:n.4081G>A
ENST00000679521.1:c.3805G>A ENSP00000505456.1:p.Gly1269Ser
ENST00000679554.1:c.*3644G>A ENSP00000506415.1:n.*3644G>A
ENST00000679722.1:n.4081G>A
ENST00000679821.1:c.3601G>A ENSP00000506040.1:p.Gly1201Ser
ENST00000680047.1:n.4081G>A
ENST00000680072.1:c.3859G>A ENSP00000506581.1:p.Gly1287Ser
ENST00000680074.1:n.4081G>A
ENST00000680181.1:c.3859G>A ENSP00000505548.1:p.Gly1287Ser
ENST00000680513.1:c.3859G>A ENSP00000505284.1:p.Gly1287Ser
ENST00000680534.1:c.3859G>A ENSP00000506674.1:p.Gly1287Ser
ENST00000680766.1:c.3859G>A ENSP00000505204.1:p.Gly1287Ser
ENST00000680952.1:c.3859G>A ENSP00000506407.1:p.Gly1287Ser
ENST00000681412.1:c.3859G>A ENSP00000506486.1:p.Gly1287Ser
ENST00000681722.1:c.3859G>A ENSP00000506566.1:p.Gly1287Ser
ENST00000356239.7:c.3859G>A ENSP00000348573.3:p.Gly1287Ser
ENST00000358100.6:c.3859G>A ENSP00000350813.3:p.Gly1287Ser
ENST00000359028.6:c.3892G>A ENSP00000351922.3:p.Gly1298Ser
ENST00000493453.1:n.4079G>A
ENST00000619023.4:c.3883G>A ENSP00000480807.1:p.Gly1295Ser
NM_005751.4:c.3859G>A , LRG_331t1:c.3859G>A NP_005742.4:p.Gly1287Ser
NM_147185.2:c.3859G>A NP_671714.1:p.Gly1287Ser
XM_006715827.1:c.3859G>A XP_006715890.1:p.Gly1287Ser
XM_011515709.1:c.3895G>A XP_011514011.1:p.Gly1299Ser
XM_011515710.1:c.3895G>A XP_011514012.1:p.Gly1299Ser
XM_011515711.1:c.3859G>A XP_011514013.1:p.Gly1287Ser
XM_011515712.1:c.3895G>A XP_011514014.1:p.Gly1299Ser
XM_011515713.1:c.3841G>A XP_011514015.1:p.Gly1281Ser
XM_011515714.1:c.3895G>A XP_011514016.1:p.Gly1299Ser
XM_011515716.1:c.3895G>A XP_011514018.1:p.Gly1299Ser
XM_011515717.1:c.3895G>A XP_011514019.1:p.Gly1299Ser
XM_011515718.1:c.3895G>A XP_011514020.1:p.Gly1299Ser
XM_011515719.1:c.3895G>A XP_011514021.1:p.Gly1299Ser
XM_011515720.1:c.3895G>A XP_011514022.1:p.Gly1299Ser
XM_017011642.2:c.3859G>A XP_016867131.1:p.Gly1287Ser
XM_017011643.2:c.3859G>A XP_016867132.1:p.Gly1287Ser
XM_017011644.2:c.3859G>A XP_016867133.1:p.Gly1287Ser
XM_017011645.2:c.3805G>A XP_016867134.1:p.Gly1269Ser
XM_017011646.2:c.3859G>A XP_016867135.1:p.Gly1287Ser
XM_017011647.2:c.3859G>A XP_016867136.1:p.Gly1287Ser
XM_017011648.2:c.3859G>A XP_016867137.1:p.Gly1287Ser
XM_017011649.2:c.3859G>A XP_016867138.1:p.Gly1287Ser
XM_017011650.2:c.3859G>A XP_016867139.1:p.Gly1287Ser
XM_017011651.2:c.3859G>A XP_016867140.1:p.Gly1287Ser
XM_017011652.2:c.3859G>A XP_016867141.1:p.Gly1287Ser
XM_017011653.2:c.3859G>A XP_016867142.1:p.Gly1287Ser
XM_017011654.2:c.3859G>A XP_016867143.1:p.Gly1287Ser
XM_017011655.2:c.3487G>A XP_016867144.1:p.Gly1163Ser
XM_017011656.2:c.3487G>A XP_016867145.1:p.Gly1163Ser
XM_024446631.1:c.3859G>A XP_024302399.1:p.Gly1287Ser
NM_147185.3:c.3859G>A NP_671714.1:p.Gly1287Ser
NM_005751.5:c.3859G>A MANE Select NP_005742.4:p.Gly1287Ser