Canonical Allele Identifier: CA368133845

Gene: AKAP9

Linked Data

• gnomAD v4: 7-92077831-G-C
• MyVariant Identifiers: chr7:g.91707145G>C (hg19) ; chr7:g.92077831G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92077831G>C , CM000669.2:g.92077831G>C	GRCh38
NC_000007.13:g.91707145G>C , CM000669.1:g.91707145G>C	GRCh37
NC_000007.12:g.91545081G>C	NCBI36
NG_011623.1:g.141957G>C , LRG_331:g.141957G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356239.8:c.6901G>C MANE Select	ENSP00000348573.3:p.Val2301Leu
ENST00000359028.7:c.6973G>C	ENSP00000351922.4:p.Val2325Leu
ENST00000394534.7:c.394G>C	ENSP00000378042.3:p.Val132Leu
ENST00000491695.2:c.1546G>C	ENSP00000494626.2:p.Val516Leu
ENST00000674381.2:c.*6630G>C	ENSP00000501536.2:n.*6630G>C
ENST00000679448.1:c.6877G>C	ENSP00000505889.1:p.Val2293Leu
ENST00000679457.1:c.6877G>C	ENSP00000505450.1:p.Val2293Leu
ENST00000679474.1:n.7099G>C
ENST00000679521.1:c.6847G>C	ENSP00000505456.1:p.Val2283Leu
ENST00000679554.1:c.*6686G>C	ENSP00000506415.1:n.*6686G>C
ENST00000679722.1:n.7123G>C
ENST00000679821.1:c.6643G>C	ENSP00000506040.1:p.Val2215Leu
ENST00000680047.1:n.7099G>C
ENST00000680072.1:c.6724G>C	ENSP00000506581.1:p.Val2242Leu
ENST00000680181.1:c.6808G>C	ENSP00000505548.1:p.Val2270Leu
ENST00000680365.1:c.394G>C	ENSP00000506019.1:p.Val132Leu
ENST00000680513.1:c.6760G>C	ENSP00000505284.1:p.Val2254Leu
ENST00000680534.1:c.6940G>C	ENSP00000506674.1:p.Val2314Leu
ENST00000680766.1:c.6877G>C	ENSP00000505204.1:p.Val2293Leu
ENST00000680952.1:c.6877G>C	ENSP00000506407.1:p.Val2293Leu
ENST00000681216.1:c.394G>C	ENSP00000505551.1:p.Val132Leu
ENST00000681412.1:c.6901G>C	ENSP00000506486.1:p.Val2301Leu
ENST00000681722.1:c.6877G>C	ENSP00000506566.1:p.Val2293Leu
ENST00000356239.7:c.6901G>C	ENSP00000348573.3:p.Val2301Leu
ENST00000358100.6:c.6760G>C	ENSP00000350813.3:p.Val2254Leu
ENST00000359028.6:c.6934G>C	ENSP00000351922.3:p.Val2312Leu
ENST00000394534.6:c.439G>C	ENSP00000378042.2:p.Val147Leu
NM_005751.4:c.6901G>C , LRG_331t1:c.6901G>C	NP_005742.4:p.Val2301Leu
NM_147185.2:c.6877G>C	NP_671714.1:p.Val2293Leu
XM_006715827.1:c.6760G>C	XP_006715890.1:p.Val2254Leu
XM_011515709.1:c.7048G>C	XP_011514011.1:p.Val2350Leu
XM_011515710.1:c.7072G>C	XP_011514012.1:p.Val2358Leu
XM_011515711.1:c.7012G>C	XP_011514013.1:p.Val2338Leu
XM_011515712.1:c.7009G>C	XP_011514014.1:p.Val2337Leu
XM_011515713.1:c.6994G>C	XP_011514015.1:p.Val2332Leu
XM_011515714.1:c.7033G>C	XP_011514016.1:p.Val2345Leu
XM_011515716.1:c.6952G>C	XP_011514018.1:p.Val2318Leu
XM_011515717.1:c.6907G>C	XP_011514019.1:p.Val2303Leu
XM_011515718.1:c.6937G>C	XP_011514020.1:p.Val2313Leu
XM_011515719.1:c.6913G>C	XP_011514021.1:p.Val2305Leu
XM_011515720.1:c.6796G>C	XP_011514022.1:p.Val2266Leu
XM_011515721.1:c.1561G>C	XP_011514023.1:p.Val521Leu
XM_011515722.1:c.1522G>C	XP_011514024.1:p.Val508Leu
XM_017011642.2:c.7036G>C	XP_016867131.1:p.Val2346Leu
XM_017011643.2:c.6997G>C	XP_016867132.1:p.Val2333Leu
XM_017011644.2:c.7036G>C	XP_016867133.1:p.Val2346Leu
XM_017011645.2:c.6982G>C	XP_016867134.1:p.Val2328Leu
XM_017011646.2:c.6997G>C	XP_016867135.1:p.Val2333Leu
XM_017011647.2:c.6943G>C	XP_016867136.1:p.Val2315Leu
XM_017011648.2:c.6940G>C	XP_016867137.1:p.Val2314Leu
XM_017011649.2:c.6973G>C	XP_016867138.1:p.Val2325Leu
XM_017011650.2:c.6901G>C	XP_016867139.1:p.Val2301Leu
XM_017011651.2:c.6895G>C	XP_016867140.1:p.Val2299Leu
XM_017011652.2:c.7036G>C	XP_016867141.1:p.Val2346Leu
XM_017011653.2:c.6808G>C	XP_016867142.1:p.Val2270Leu
XM_017011654.2:c.6760G>C	XP_016867143.1:p.Val2254Leu
XM_017011655.2:c.6664G>C	XP_016867144.1:p.Val2222Leu
XM_017011656.2:c.6664G>C	XP_016867145.1:p.Val2222Leu
XM_017011657.2:c.2701G>C	XP_016867146.1:p.Val901Leu
XM_017011658.2:c.1585G>C	XP_016867147.1:p.Val529Leu
XM_017011659.2:c.1546G>C	XP_016867148.1:p.Val516Leu
XM_017011660.2:c.1546G>C	XP_016867149.1:p.Val516Leu
XM_024446631.1:c.6799G>C	XP_024302399.1:p.Val2267Leu
NM_147185.3:c.6877G>C	NP_671714.1:p.Val2293Leu
NM_001379277.1:c.1546G>C	NP_001366206.1:p.Val516Leu
NM_005751.5:c.6901G>C MANE Select	NP_005742.4:p.Val2301Leu