Canonical Allele Identifier: CA4337178

Gene: AKAP9

Linked Data

• ClinVar Variation Id: 1053607
• ClinVar RCV Id: RCV001361976
• dbSNP Id: rs765553799
• ExAC: 7:91707050 A / T
• gnomAD v2: 7-91707050-A-T
• gnomAD v3: 7-92077736-A-T
• gnomAD v4: 7-92077736-A-T
• MyVariant Identifiers: chr7:g.91707050A>T (hg19) ; chr7:g.92077736A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92077736A>T , CM000669.2:g.92077736A>T	GRCh38
NC_000007.13:g.91707050A>T , CM000669.1:g.91707050A>T	GRCh37
NC_000007.12:g.91544986A>T	NCBI36
NG_011623.1:g.141862A>T , LRG_331:g.141862A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356239.8:c.6806A>T MANE Select	ENSP00000348573.3:p.Asp2269Val
ENST00000359028.7:c.6878A>T	ENSP00000351922.4:p.Asp2293Val
ENST00000394534.7:c.299A>T	ENSP00000378042.3:p.Asp100Val
ENST00000491695.2:c.1451A>T	ENSP00000494626.2:p.Asp484Val
ENST00000674381.2:c.*6535A>T	ENSP00000501536.2:n.*6535A>T
ENST00000679448.1:c.6782A>T	ENSP00000505889.1:p.Asp2261Val
ENST00000679457.1:c.6782A>T	ENSP00000505450.1:p.Asp2261Val
ENST00000679474.1:n.7004A>T
ENST00000679521.1:c.6752A>T	ENSP00000505456.1:p.Asp2251Val
ENST00000679554.1:c.*6591A>T	ENSP00000506415.1:n.*6591A>T
ENST00000679722.1:n.7028A>T
ENST00000679821.1:c.6548A>T	ENSP00000506040.1:p.Asp2183Val
ENST00000680047.1:n.7004A>T
ENST00000680072.1:c.6629A>T	ENSP00000506581.1:p.Asp2210Val
ENST00000680181.1:c.6713A>T	ENSP00000505548.1:p.Asp2238Val
ENST00000680365.1:c.299A>T	ENSP00000506019.1:p.Asp100Val
ENST00000680513.1:c.6665A>T	ENSP00000505284.1:p.Asp2222Val
ENST00000680534.1:c.6845A>T	ENSP00000506674.1:p.Asp2282Val
ENST00000680766.1:c.6782A>T	ENSP00000505204.1:p.Asp2261Val
ENST00000680952.1:c.6782A>T	ENSP00000506407.1:p.Asp2261Val
ENST00000681216.1:c.299A>T	ENSP00000505551.1:p.Asp100Val
ENST00000681412.1:c.6806A>T	ENSP00000506486.1:p.Asp2269Val
ENST00000681722.1:c.6782A>T	ENSP00000506566.1:p.Asp2261Val
ENST00000356239.7:c.6806A>T	ENSP00000348573.3:p.Asp2269Val
ENST00000358100.6:c.6665A>T	ENSP00000350813.3:p.Asp2222Val
ENST00000359028.6:c.6839A>T	ENSP00000351922.3:p.Asp2280Val
ENST00000394534.6:c.344A>T	ENSP00000378042.2:p.Asp115Val
NM_005751.4:c.6806A>T , LRG_331t1:c.6806A>T	NP_005742.4:p.Asp2269Val
NM_147185.2:c.6782A>T	NP_671714.1:p.Asp2261Val
XM_006715827.1:c.6665A>T	XP_006715890.1:p.Asp2222Val
XM_011515709.1:c.6953A>T	XP_011514011.1:p.Asp2318Val
XM_011515710.1:c.6977A>T	XP_011514012.1:p.Asp2326Val
XM_011515711.1:c.6917A>T	XP_011514013.1:p.Asp2306Val
XM_011515712.1:c.6914A>T	XP_011514014.1:p.Asp2305Val
XM_011515713.1:c.6899A>T	XP_011514015.1:p.Asp2300Val
XM_011515714.1:c.6938A>T	XP_011514016.1:p.Asp2313Val
XM_011515716.1:c.6857A>T	XP_011514018.1:p.Asp2286Val
XM_011515717.1:c.6812A>T	XP_011514019.1:p.Asp2271Val
XM_011515718.1:c.6842A>T	XP_011514020.1:p.Asp2281Val
XM_011515719.1:c.6818A>T	XP_011514021.1:p.Asp2273Val
XM_011515720.1:c.6701A>T	XP_011514022.1:p.Asp2234Val
XM_011515721.1:c.1466A>T	XP_011514023.1:p.Asp489Val
XM_011515722.1:c.1427A>T	XP_011514024.1:p.Asp476Val
XM_017011642.2:c.6941A>T	XP_016867131.1:p.Asp2314Val
XM_017011643.2:c.6902A>T	XP_016867132.1:p.Asp2301Val
XM_017011644.2:c.6941A>T	XP_016867133.1:p.Asp2314Val
XM_017011645.2:c.6887A>T	XP_016867134.1:p.Asp2296Val
XM_017011646.2:c.6902A>T	XP_016867135.1:p.Asp2301Val
XM_017011647.2:c.6848A>T	XP_016867136.1:p.Asp2283Val
XM_017011648.2:c.6845A>T	XP_016867137.1:p.Asp2282Val
XM_017011649.2:c.6878A>T	XP_016867138.1:p.Asp2293Val
XM_017011650.2:c.6806A>T	XP_016867139.1:p.Asp2269Val
XM_017011651.2:c.6800A>T	XP_016867140.1:p.Asp2267Val
XM_017011652.2:c.6941A>T	XP_016867141.1:p.Asp2314Val
XM_017011653.2:c.6713A>T	XP_016867142.1:p.Asp2238Val
XM_017011654.2:c.6665A>T	XP_016867143.1:p.Asp2222Val
XM_017011655.2:c.6569A>T	XP_016867144.1:p.Asp2190Val
XM_017011656.2:c.6569A>T	XP_016867145.1:p.Asp2190Val
XM_017011657.2:c.2606A>T	XP_016867146.1:p.Asp869Val
XM_017011658.2:c.1490A>T	XP_016867147.1:p.Asp497Val
XM_017011659.2:c.1451A>T	XP_016867148.1:p.Asp484Val
XM_017011660.2:c.1451A>T	XP_016867149.1:p.Asp484Val
XM_024446631.1:c.6704A>T	XP_024302399.1:p.Asp2235Val
NM_147185.3:c.6782A>T	NP_671714.1:p.Asp2261Val
NM_001379277.1:c.1451A>T	NP_001366206.1:p.Asp484Val
NM_005751.5:c.6806A>T MANE Select	NP_005742.4:p.Asp2269Val