Canonical Allele Identifier: CA368133913

Gene: AKAP9

Linked Data

• gnomAD v4: 7-92077862-C-T
• MyVariant Identifiers: chr7:g.91707176C>T (hg19) ; chr7:g.92077862C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92077862C>T , CM000669.2:g.92077862C>T	GRCh38
NC_000007.13:g.91707176C>T , CM000669.1:g.91707176C>T	GRCh37
NC_000007.12:g.91545112C>T	NCBI36
NG_011623.1:g.141988C>T , LRG_331:g.141988C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356239.8:c.6932C>T MANE Select	ENSP00000348573.3:p.Thr2311Ile
ENST00000359028.7:c.7004C>T	ENSP00000351922.4:p.Thr2335Ile
ENST00000394534.7:c.425C>T	ENSP00000378042.3:p.Thr142Ile
ENST00000491695.2:c.1577C>T	ENSP00000494626.2:p.Thr526Ile
ENST00000674381.2:c.*6661C>T	ENSP00000501536.2:n.*6661C>T
ENST00000679448.1:c.6908C>T	ENSP00000505889.1:p.Thr2303Ile
ENST00000679457.1:c.6908C>T	ENSP00000505450.1:p.Thr2303Ile
ENST00000679474.1:n.7130C>T
ENST00000679521.1:c.6878C>T	ENSP00000505456.1:p.Thr2293Ile
ENST00000679554.1:c.*6717C>T	ENSP00000506415.1:n.*6717C>T
ENST00000679722.1:n.7154C>T
ENST00000679821.1:c.6674C>T	ENSP00000506040.1:p.Thr2225Ile
ENST00000680047.1:n.7130C>T
ENST00000680072.1:c.6755C>T	ENSP00000506581.1:p.Thr2252Ile
ENST00000680181.1:c.6839C>T	ENSP00000505548.1:p.Thr2280Ile
ENST00000680365.1:c.425C>T	ENSP00000506019.1:p.Thr142Ile
ENST00000680513.1:c.6791C>T	ENSP00000505284.1:p.Thr2264Ile
ENST00000680534.1:c.6971C>T	ENSP00000506674.1:p.Thr2324Ile
ENST00000680766.1:c.6908C>T	ENSP00000505204.1:p.Thr2303Ile
ENST00000680952.1:c.6908C>T	ENSP00000506407.1:p.Thr2303Ile
ENST00000681216.1:c.425C>T	ENSP00000505551.1:p.Thr142Ile
ENST00000681412.1:c.6932C>T	ENSP00000506486.1:p.Thr2311Ile
ENST00000681722.1:c.6908C>T	ENSP00000506566.1:p.Thr2303Ile
ENST00000356239.7:c.6932C>T	ENSP00000348573.3:p.Thr2311Ile
ENST00000358100.6:c.6791C>T	ENSP00000350813.3:p.Thr2264Ile
ENST00000359028.6:c.6965C>T	ENSP00000351922.3:p.Thr2322Ile
ENST00000394534.6:c.470C>T	ENSP00000378042.2:p.Thr157Ile
NM_005751.4:c.6932C>T , LRG_331t1:c.6932C>T	NP_005742.4:p.Thr2311Ile
NM_147185.2:c.6908C>T	NP_671714.1:p.Thr2303Ile
XM_006715827.1:c.6791C>T	XP_006715890.1:p.Thr2264Ile
XM_011515709.1:c.7079C>T	XP_011514011.1:p.Thr2360Ile
XM_011515710.1:c.7103C>T	XP_011514012.1:p.Thr2368Ile
XM_011515711.1:c.7043C>T	XP_011514013.1:p.Thr2348Ile
XM_011515712.1:c.7040C>T	XP_011514014.1:p.Thr2347Ile
XM_011515713.1:c.7025C>T	XP_011514015.1:p.Thr2342Ile
XM_011515714.1:c.7064C>T	XP_011514016.1:p.Thr2355Ile
XM_011515716.1:c.6983C>T	XP_011514018.1:p.Thr2328Ile
XM_011515717.1:c.6938C>T	XP_011514019.1:p.Thr2313Ile
XM_011515718.1:c.6968C>T	XP_011514020.1:p.Thr2323Ile
XM_011515719.1:c.6944C>T	XP_011514021.1:p.Thr2315Ile
XM_011515720.1:c.6827C>T	XP_011514022.1:p.Thr2276Ile
XM_011515721.1:c.1592C>T	XP_011514023.1:p.Thr531Ile
XM_011515722.1:c.1553C>T	XP_011514024.1:p.Thr518Ile
XM_017011642.2:c.7067C>T	XP_016867131.1:p.Thr2356Ile
XM_017011643.2:c.7028C>T	XP_016867132.1:p.Thr2343Ile
XM_017011644.2:c.7067C>T	XP_016867133.1:p.Thr2356Ile
XM_017011645.2:c.7013C>T	XP_016867134.1:p.Thr2338Ile
XM_017011646.2:c.7028C>T	XP_016867135.1:p.Thr2343Ile
XM_017011647.2:c.6974C>T	XP_016867136.1:p.Thr2325Ile
XM_017011648.2:c.6971C>T	XP_016867137.1:p.Thr2324Ile
XM_017011649.2:c.7004C>T	XP_016867138.1:p.Thr2335Ile
XM_017011650.2:c.6932C>T	XP_016867139.1:p.Thr2311Ile
XM_017011651.2:c.6926C>T	XP_016867140.1:p.Thr2309Ile
XM_017011652.2:c.7067C>T	XP_016867141.1:p.Thr2356Ile
XM_017011653.2:c.6839C>T	XP_016867142.1:p.Thr2280Ile
XM_017011654.2:c.6791C>T	XP_016867143.1:p.Thr2264Ile
XM_017011655.2:c.6695C>T	XP_016867144.1:p.Thr2232Ile
XM_017011656.2:c.6695C>T	XP_016867145.1:p.Thr2232Ile
XM_017011657.2:c.2732C>T	XP_016867146.1:p.Thr911Ile
XM_017011658.2:c.1616C>T	XP_016867147.1:p.Thr539Ile
XM_017011659.2:c.1577C>T	XP_016867148.1:p.Thr526Ile
XM_017011660.2:c.1577C>T	XP_016867149.1:p.Thr526Ile
XM_024446631.1:c.6830C>T	XP_024302399.1:p.Thr2277Ile
NM_147185.3:c.6908C>T	NP_671714.1:p.Thr2303Ile
NM_001379277.1:c.1577C>T	NP_001366206.1:p.Thr526Ile
NM_005751.5:c.6932C>T MANE Select	NP_005742.4:p.Thr2311Ile