Canonical Allele Identifier: CA4337187

Gene: AKAP9

Linked Data

• ClinVar Variation Id: 2884458
• ClinVar RCV Id: RCV003648748
• dbSNP Id: rs778698845
• ExAC: 7:91707142 C / G
• gnomAD v2: 7-91707142-C-G
• gnomAD v3: 7-92077828-C-G
• gnomAD v4: 7-92077828-C-G
• MyVariant Identifiers: chr7:g.91707142C>G (hg19) ; chr7:g.92077828C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92077828C>G , CM000669.2:g.92077828C>G	GRCh38
NC_000007.13:g.91707142C>G , CM000669.1:g.91707142C>G	GRCh37
NC_000007.12:g.91545078C>G	NCBI36
NG_011623.1:g.141954C>G , LRG_331:g.141954C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356239.8:c.6898C>G MANE Select	ENSP00000348573.3:p.Gln2300Glu
ENST00000359028.7:c.6970C>G	ENSP00000351922.4:p.Gln2324Glu
ENST00000394534.7:c.391C>G	ENSP00000378042.3:p.Gln131Glu
ENST00000491695.2:c.1543C>G	ENSP00000494626.2:p.Gln515Glu
ENST00000674381.2:c.*6627C>G	ENSP00000501536.2:n.*6627C>G
ENST00000679448.1:c.6874C>G	ENSP00000505889.1:p.Gln2292Glu
ENST00000679457.1:c.6874C>G	ENSP00000505450.1:p.Gln2292Glu
ENST00000679474.1:n.7096C>G
ENST00000679521.1:c.6844C>G	ENSP00000505456.1:p.Gln2282Glu
ENST00000679554.1:c.*6683C>G	ENSP00000506415.1:n.*6683C>G
ENST00000679722.1:n.7120C>G
ENST00000679821.1:c.6640C>G	ENSP00000506040.1:p.Gln2214Glu
ENST00000680047.1:n.7096C>G
ENST00000680072.1:c.6721C>G	ENSP00000506581.1:p.Gln2241Glu
ENST00000680181.1:c.6805C>G	ENSP00000505548.1:p.Gln2269Glu
ENST00000680365.1:c.391C>G	ENSP00000506019.1:p.Gln131Glu
ENST00000680513.1:c.6757C>G	ENSP00000505284.1:p.Gln2253Glu
ENST00000680534.1:c.6937C>G	ENSP00000506674.1:p.Gln2313Glu
ENST00000680766.1:c.6874C>G	ENSP00000505204.1:p.Gln2292Glu
ENST00000680952.1:c.6874C>G	ENSP00000506407.1:p.Gln2292Glu
ENST00000681216.1:c.391C>G	ENSP00000505551.1:p.Gln131Glu
ENST00000681412.1:c.6898C>G	ENSP00000506486.1:p.Gln2300Glu
ENST00000681722.1:c.6874C>G	ENSP00000506566.1:p.Gln2292Glu
ENST00000356239.7:c.6898C>G	ENSP00000348573.3:p.Gln2300Glu
ENST00000358100.6:c.6757C>G	ENSP00000350813.3:p.Gln2253Glu
ENST00000359028.6:c.6931C>G	ENSP00000351922.3:p.Gln2311Glu
ENST00000394534.6:c.436C>G	ENSP00000378042.2:p.Gln146Glu
NM_005751.4:c.6898C>G , LRG_331t1:c.6898C>G	NP_005742.4:p.Gln2300Glu
NM_147185.2:c.6874C>G	NP_671714.1:p.Gln2292Glu
XM_006715827.1:c.6757C>G	XP_006715890.1:p.Gln2253Glu
XM_011515709.1:c.7045C>G	XP_011514011.1:p.Gln2349Glu
XM_011515710.1:c.7069C>G	XP_011514012.1:p.Gln2357Glu
XM_011515711.1:c.7009C>G	XP_011514013.1:p.Gln2337Glu
XM_011515712.1:c.7006C>G	XP_011514014.1:p.Gln2336Glu
XM_011515713.1:c.6991C>G	XP_011514015.1:p.Gln2331Glu
XM_011515714.1:c.7030C>G	XP_011514016.1:p.Gln2344Glu
XM_011515716.1:c.6949C>G	XP_011514018.1:p.Gln2317Glu
XM_011515717.1:c.6904C>G	XP_011514019.1:p.Gln2302Glu
XM_011515718.1:c.6934C>G	XP_011514020.1:p.Gln2312Glu
XM_011515719.1:c.6910C>G	XP_011514021.1:p.Gln2304Glu
XM_011515720.1:c.6793C>G	XP_011514022.1:p.Gln2265Glu
XM_011515721.1:c.1558C>G	XP_011514023.1:p.Gln520Glu
XM_011515722.1:c.1519C>G	XP_011514024.1:p.Gln507Glu
XM_017011642.2:c.7033C>G	XP_016867131.1:p.Gln2345Glu
XM_017011643.2:c.6994C>G	XP_016867132.1:p.Gln2332Glu
XM_017011644.2:c.7033C>G	XP_016867133.1:p.Gln2345Glu
XM_017011645.2:c.6979C>G	XP_016867134.1:p.Gln2327Glu
XM_017011646.2:c.6994C>G	XP_016867135.1:p.Gln2332Glu
XM_017011647.2:c.6940C>G	XP_016867136.1:p.Gln2314Glu
XM_017011648.2:c.6937C>G	XP_016867137.1:p.Gln2313Glu
XM_017011649.2:c.6970C>G	XP_016867138.1:p.Gln2324Glu
XM_017011650.2:c.6898C>G	XP_016867139.1:p.Gln2300Glu
XM_017011651.2:c.6892C>G	XP_016867140.1:p.Gln2298Glu
XM_017011652.2:c.7033C>G	XP_016867141.1:p.Gln2345Glu
XM_017011653.2:c.6805C>G	XP_016867142.1:p.Gln2269Glu
XM_017011654.2:c.6757C>G	XP_016867143.1:p.Gln2253Glu
XM_017011655.2:c.6661C>G	XP_016867144.1:p.Gln2221Glu
XM_017011656.2:c.6661C>G	XP_016867145.1:p.Gln2221Glu
XM_017011657.2:c.2698C>G	XP_016867146.1:p.Gln900Glu
XM_017011658.2:c.1582C>G	XP_016867147.1:p.Gln528Glu
XM_017011659.2:c.1543C>G	XP_016867148.1:p.Gln515Glu
XM_017011660.2:c.1543C>G	XP_016867149.1:p.Gln515Glu
XM_024446631.1:c.6796C>G	XP_024302399.1:p.Gln2266Glu
NM_147185.3:c.6874C>G	NP_671714.1:p.Gln2292Glu
NM_001379277.1:c.1543C>G	NP_001366206.1:p.Gln515Glu
NM_005751.5:c.6898C>G MANE Select	NP_005742.4:p.Gln2300Glu