Canonical Allele Identifier: CA4337177

Gene: AKAP9

Linked Data

• ClinVar Variation Id: 1755532
• ClinVar RCV Id: RCV002369500 ; RCV003647902
• dbSNP Id: rs144538179
• ExAC: 7:91707045 A / G
• gnomAD v2: 7-91707045-A-G
• gnomAD v4: 7-92077731-A-G
• MyVariant Identifiers: chr7:g.91707045A>G (hg19) ; chr7:g.92077731A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92077731A>G , CM000669.2:g.92077731A>G	GRCh38
NC_000007.13:g.91707045A>G , CM000669.1:g.91707045A>G	GRCh37
NC_000007.12:g.91544981A>G	NCBI36
NG_011623.1:g.141857A>G , LRG_331:g.141857A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356239.8:c.6801A>G MANE Select	ENSP00000348573.3:p.Glu2267=
ENST00000359028.7:c.6873A>G	ENSP00000351922.4:p.Glu2291=
ENST00000394534.7:c.294A>G	ENSP00000378042.3:p.Glu98=
ENST00000491695.2:c.1446A>G	ENSP00000494626.2:p.Glu482=
ENST00000674381.2:c.*6530A>G	ENSP00000501536.2:n.*6530A>G
ENST00000679448.1:c.6777A>G	ENSP00000505889.1:p.Glu2259=
ENST00000679457.1:c.6777A>G	ENSP00000505450.1:p.Glu2259=
ENST00000679474.1:n.6999A>G
ENST00000679521.1:c.6747A>G	ENSP00000505456.1:p.Glu2249=
ENST00000679554.1:c.*6586A>G	ENSP00000506415.1:n.*6586A>G
ENST00000679722.1:n.7023A>G
ENST00000679821.1:c.6543A>G	ENSP00000506040.1:p.Glu2181=
ENST00000680047.1:n.6999A>G
ENST00000680072.1:c.6624A>G	ENSP00000506581.1:p.Glu2208=
ENST00000680181.1:c.6708A>G	ENSP00000505548.1:p.Glu2236=
ENST00000680365.1:c.294A>G	ENSP00000506019.1:p.Glu98=
ENST00000680513.1:c.6660A>G	ENSP00000505284.1:p.Glu2220=
ENST00000680534.1:c.6840A>G	ENSP00000506674.1:p.Glu2280=
ENST00000680766.1:c.6777A>G	ENSP00000505204.1:p.Glu2259=
ENST00000680952.1:c.6777A>G	ENSP00000506407.1:p.Glu2259=
ENST00000681216.1:c.294A>G	ENSP00000505551.1:p.Glu98=
ENST00000681412.1:c.6801A>G	ENSP00000506486.1:p.Glu2267=
ENST00000681722.1:c.6777A>G	ENSP00000506566.1:p.Glu2259=
ENST00000356239.7:c.6801A>G	ENSP00000348573.3:p.Glu2267=
ENST00000358100.6:c.6660A>G	ENSP00000350813.3:p.Glu2220=
ENST00000359028.6:c.6834A>G	ENSP00000351922.3:p.Glu2278=
ENST00000394534.6:c.339A>G	ENSP00000378042.2:p.Glu113=
NM_005751.4:c.6801A>G , LRG_331t1:c.6801A>G	NP_005742.4:p.Glu2267=
NM_147185.2:c.6777A>G	NP_671714.1:p.Glu2259=
XM_006715827.1:c.6660A>G	XP_006715890.1:p.Glu2220=
XM_011515709.1:c.6948A>G	XP_011514011.1:p.Glu2316=
XM_011515710.1:c.6972A>G	XP_011514012.1:p.Glu2324=
XM_011515711.1:c.6912A>G	XP_011514013.1:p.Glu2304=
XM_011515712.1:c.6909A>G	XP_011514014.1:p.Glu2303=
XM_011515713.1:c.6894A>G	XP_011514015.1:p.Glu2298=
XM_011515714.1:c.6933A>G	XP_011514016.1:p.Glu2311=
XM_011515716.1:c.6852A>G	XP_011514018.1:p.Glu2284=
XM_011515717.1:c.6807A>G	XP_011514019.1:p.Glu2269=
XM_011515718.1:c.6837A>G	XP_011514020.1:p.Glu2279=
XM_011515719.1:c.6813A>G	XP_011514021.1:p.Glu2271=
XM_011515720.1:c.6696A>G	XP_011514022.1:p.Glu2232=
XM_011515721.1:c.1461A>G	XP_011514023.1:p.Glu487=
XM_011515722.1:c.1422A>G	XP_011514024.1:p.Glu474=
XM_017011642.2:c.6936A>G	XP_016867131.1:p.Glu2312=
XM_017011643.2:c.6897A>G	XP_016867132.1:p.Glu2299=
XM_017011644.2:c.6936A>G	XP_016867133.1:p.Glu2312=
XM_017011645.2:c.6882A>G	XP_016867134.1:p.Glu2294=
XM_017011646.2:c.6897A>G	XP_016867135.1:p.Glu2299=
XM_017011647.2:c.6843A>G	XP_016867136.1:p.Glu2281=
XM_017011648.2:c.6840A>G	XP_016867137.1:p.Glu2280=
XM_017011649.2:c.6873A>G	XP_016867138.1:p.Glu2291=
XM_017011650.2:c.6801A>G	XP_016867139.1:p.Glu2267=
XM_017011651.2:c.6795A>G	XP_016867140.1:p.Glu2265=
XM_017011652.2:c.6936A>G	XP_016867141.1:p.Glu2312=
XM_017011653.2:c.6708A>G	XP_016867142.1:p.Glu2236=
XM_017011654.2:c.6660A>G	XP_016867143.1:p.Glu2220=
XM_017011655.2:c.6564A>G	XP_016867144.1:p.Glu2188=
XM_017011656.2:c.6564A>G	XP_016867145.1:p.Glu2188=
XM_017011657.2:c.2601A>G	XP_016867146.1:p.Glu867=
XM_017011658.2:c.1485A>G	XP_016867147.1:p.Glu495=
XM_017011659.2:c.1446A>G	XP_016867148.1:p.Glu482=
XM_017011660.2:c.1446A>G	XP_016867149.1:p.Glu482=
XM_024446631.1:c.6699A>G	XP_024302399.1:p.Glu2233=
NM_147185.3:c.6777A>G	NP_671714.1:p.Glu2259=
NM_001379277.1:c.1446A>G	NP_001366206.1:p.Glu482=
NM_005751.5:c.6801A>G MANE Select	NP_005742.4:p.Glu2267=