Canonical Allele Identifier: CA368133891

Gene: AKAP9

Linked Data

• gnomAD v4: 7-92077852-C-T
• MyVariant Identifiers: chr7:g.91707166C>T (hg19) ; chr7:g.92077852C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92077852C>T , CM000669.2:g.92077852C>T	GRCh38
NC_000007.13:g.91707166C>T , CM000669.1:g.91707166C>T	GRCh37
NC_000007.12:g.91545102C>T	NCBI36
NG_011623.1:g.141978C>T , LRG_331:g.141978C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356239.8:c.6922C>T MANE Select	ENSP00000348573.3:p.Leu2308Phe
ENST00000359028.7:c.6994C>T	ENSP00000351922.4:p.Leu2332Phe
ENST00000394534.7:c.415C>T	ENSP00000378042.3:p.Leu139Phe
ENST00000491695.2:c.1567C>T	ENSP00000494626.2:p.Leu523Phe
ENST00000674381.2:c.*6651C>T	ENSP00000501536.2:n.*6651C>T
ENST00000679448.1:c.6898C>T	ENSP00000505889.1:p.Leu2300Phe
ENST00000679457.1:c.6898C>T	ENSP00000505450.1:p.Leu2300Phe
ENST00000679474.1:n.7120C>T
ENST00000679521.1:c.6868C>T	ENSP00000505456.1:p.Leu2290Phe
ENST00000679554.1:c.*6707C>T	ENSP00000506415.1:n.*6707C>T
ENST00000679722.1:n.7144C>T
ENST00000679821.1:c.6664C>T	ENSP00000506040.1:p.Leu2222Phe
ENST00000680047.1:n.7120C>T
ENST00000680072.1:c.6745C>T	ENSP00000506581.1:p.Leu2249Phe
ENST00000680181.1:c.6829C>T	ENSP00000505548.1:p.Leu2277Phe
ENST00000680365.1:c.415C>T	ENSP00000506019.1:p.Leu139Phe
ENST00000680513.1:c.6781C>T	ENSP00000505284.1:p.Leu2261Phe
ENST00000680534.1:c.6961C>T	ENSP00000506674.1:p.Leu2321Phe
ENST00000680766.1:c.6898C>T	ENSP00000505204.1:p.Leu2300Phe
ENST00000680952.1:c.6898C>T	ENSP00000506407.1:p.Leu2300Phe
ENST00000681216.1:c.415C>T	ENSP00000505551.1:p.Leu139Phe
ENST00000681412.1:c.6922C>T	ENSP00000506486.1:p.Leu2308Phe
ENST00000681722.1:c.6898C>T	ENSP00000506566.1:p.Leu2300Phe
ENST00000356239.7:c.6922C>T	ENSP00000348573.3:p.Leu2308Phe
ENST00000358100.6:c.6781C>T	ENSP00000350813.3:p.Leu2261Phe
ENST00000359028.6:c.6955C>T	ENSP00000351922.3:p.Leu2319Phe
ENST00000394534.6:c.460C>T	ENSP00000378042.2:p.Leu154Phe
NM_005751.4:c.6922C>T , LRG_331t1:c.6922C>T	NP_005742.4:p.Leu2308Phe
NM_147185.2:c.6898C>T	NP_671714.1:p.Leu2300Phe
XM_006715827.1:c.6781C>T	XP_006715890.1:p.Leu2261Phe
XM_011515709.1:c.7069C>T	XP_011514011.1:p.Leu2357Phe
XM_011515710.1:c.7093C>T	XP_011514012.1:p.Leu2365Phe
XM_011515711.1:c.7033C>T	XP_011514013.1:p.Leu2345Phe
XM_011515712.1:c.7030C>T	XP_011514014.1:p.Leu2344Phe
XM_011515713.1:c.7015C>T	XP_011514015.1:p.Leu2339Phe
XM_011515714.1:c.7054C>T	XP_011514016.1:p.Leu2352Phe
XM_011515716.1:c.6973C>T	XP_011514018.1:p.Leu2325Phe
XM_011515717.1:c.6928C>T	XP_011514019.1:p.Leu2310Phe
XM_011515718.1:c.6958C>T	XP_011514020.1:p.Leu2320Phe
XM_011515719.1:c.6934C>T	XP_011514021.1:p.Leu2312Phe
XM_011515720.1:c.6817C>T	XP_011514022.1:p.Leu2273Phe
XM_011515721.1:c.1582C>T	XP_011514023.1:p.Leu528Phe
XM_011515722.1:c.1543C>T	XP_011514024.1:p.Leu515Phe
XM_017011642.2:c.7057C>T	XP_016867131.1:p.Leu2353Phe
XM_017011643.2:c.7018C>T	XP_016867132.1:p.Leu2340Phe
XM_017011644.2:c.7057C>T	XP_016867133.1:p.Leu2353Phe
XM_017011645.2:c.7003C>T	XP_016867134.1:p.Leu2335Phe
XM_017011646.2:c.7018C>T	XP_016867135.1:p.Leu2340Phe
XM_017011647.2:c.6964C>T	XP_016867136.1:p.Leu2322Phe
XM_017011648.2:c.6961C>T	XP_016867137.1:p.Leu2321Phe
XM_017011649.2:c.6994C>T	XP_016867138.1:p.Leu2332Phe
XM_017011650.2:c.6922C>T	XP_016867139.1:p.Leu2308Phe
XM_017011651.2:c.6916C>T	XP_016867140.1:p.Leu2306Phe
XM_017011652.2:c.7057C>T	XP_016867141.1:p.Leu2353Phe
XM_017011653.2:c.6829C>T	XP_016867142.1:p.Leu2277Phe
XM_017011654.2:c.6781C>T	XP_016867143.1:p.Leu2261Phe
XM_017011655.2:c.6685C>T	XP_016867144.1:p.Leu2229Phe
XM_017011656.2:c.6685C>T	XP_016867145.1:p.Leu2229Phe
XM_017011657.2:c.2722C>T	XP_016867146.1:p.Leu908Phe
XM_017011658.2:c.1606C>T	XP_016867147.1:p.Leu536Phe
XM_017011659.2:c.1567C>T	XP_016867148.1:p.Leu523Phe
XM_017011660.2:c.1567C>T	XP_016867149.1:p.Leu523Phe
XM_024446631.1:c.6820C>T	XP_024302399.1:p.Leu2274Phe
NM_147185.3:c.6898C>T	NP_671714.1:p.Leu2300Phe
NM_001379277.1:c.1567C>T	NP_001366206.1:p.Leu523Phe
NM_005751.5:c.6922C>T MANE Select	NP_005742.4:p.Leu2308Phe