Canonical Allele Identifier: CA161897129
Community Standard Title: NM_005751.5(AKAP9):c.10315A>G (p.Ile3439Val)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92097274A>G , CM000669.2:g.92097274A>G GRCh38
NC_000007.13:g.91726588A>G , CM000669.1:g.91726588A>G GRCh37
NC_000007.12:g.91564524A>G NCBI36
NG_011623.1:g.161400A>G , LRG_331:g.161400A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.10315A>G (AKAP9) MANE Select NP_005742.4:p.Ile3439Val
ENST00000356239.8:c.10315A>G (AKAP9) MANE Select ENSP00000348573.3:p.Ile3439Val
NM_001379277.1:c.4960A>G (AKAP9) NP_001366206.1:p.Ile1654Val
NM_005751.4:c.10315A>G , LRG_331t1:c.10315A>G (AKAP9) NP_005742.4:p.Ile3439Val
NM_147185.2:c.10291A>G (AKAP9) NP_671714.1:p.Ile3431Val
NM_147185.3:c.10291A>G (AKAP9) NP_671714.1:p.Ile3431Val
ENST00000356239.7:c.10315A>G (AKAP9) ENSP00000348573.3:p.Ile3439Val
ENST00000359028.6:c.10324A>G (AKAP9) ENSP00000351922.3:p.Ile3442Val
ENST00000359028.7:c.10387A>G (AKAP9) ENSP00000351922.4:p.Ile3463Val
ENST00000394534.6:c.3853A>G (AKAP9) ENSP00000378042.2:p.Ile1285Val
ENST00000394534.7:c.3391-312A>G (AKAP9) ENSP00000378042.3:n.3391-312A>G
ENST00000487258.5:n.2065A>G (AKAP9)
ENST00000487692.1:n.115A>G (AKAP9)
ENST00000487692.2:n.2393A>G (AKAP9)
ENST00000491695.2:c.4960A>G (AKAP9) ENSP00000494626.2:p.Ile1654Val
ENST00000679448.1:c.*1195A>G (AKAP9) ENSP00000505889.1:n.*1195A>G
ENST00000679457.1:c.10291A>G (AKAP9) ENSP00000505450.1:p.Ile3431Val
ENST00000679474.1:n.10513A>G (AKAP9)
ENST00000679521.1:c.10261A>G (AKAP9) ENSP00000505456.1:p.Ile3421Val
ENST00000679821.1:c.10057A>G (AKAP9) ENSP00000506040.1:p.Ile3353Val
ENST00000680047.1:n.10513A>G (AKAP9)
ENST00000680072.1:c.10138A>G (AKAP9) ENSP00000506581.1:p.Ile3380Val
ENST00000680181.1:c.10222A>G (AKAP9) ENSP00000505548.1:p.Ile3408Val
ENST00000680365.1:c.3954A>G (AKAP9) ENSP00000506019.1:n.3954A>G
ENST00000680513.1:c.10174A>G (AKAP9) ENSP00000505284.1:p.Ile3392Val
ENST00000680534.1:c.10354A>G (AKAP9) ENSP00000506674.1:p.Ile3452Val
ENST00000680766.1:c.10291A>G (AKAP9) ENSP00000505204.1:p.Ile3431Val
ENST00000680952.1:c.10291A>G (AKAP9) ENSP00000506407.1:p.Ile3431Val
ENST00000681216.1:c.4075A>G (AKAP9) ENSP00000505551.1:n.4075A>G
ENST00000681412.1:c.10315A>G (AKAP9) ENSP00000506486.1:p.Ile3439Val
ENST00000681722.1:c.10291A>G (AKAP9) ENSP00000506566.1:p.Ile3431Val
ENST00000691309.1:c.1352-11672T>C (CYP51A1) ENSP00000510368.1:n.1352-11672T>C
XM_006715827.1:c.10174A>G (AKAP9) XP_006715890.1:p.Ile3392Val
XM_011515709.1:c.10462A>G (AKAP9) XP_011514011.1:p.Ile3488Val
XM_011515710.1:c.10486A>G (AKAP9) XP_011514012.1:p.Ile3496Val
XM_011515711.1:c.10426A>G (AKAP9) XP_011514013.1:p.Ile3476Val
XM_011515712.1:c.10423A>G (AKAP9) XP_011514014.1:p.Ile3475Val
XM_011515713.1:c.10408A>G (AKAP9) XP_011514015.1:p.Ile3470Val
XM_011515714.1:c.10447A>G (AKAP9) XP_011514016.1:p.Ile3483Val
XM_011515716.1:c.10366A>G (AKAP9) XP_011514018.1:p.Ile3456Val
XM_011515717.1:c.10321A>G (AKAP9) XP_011514019.1:p.Ile3441Val
XM_011515718.1:c.10351A>G (AKAP9) XP_011514020.1:p.Ile3451Val
XM_011515719.1:c.10327A>G (AKAP9) XP_011514021.1:p.Ile3443Val
XM_011515721.1:c.4975A>G (AKAP9) XP_011514023.1:p.Ile1659Val
XM_011515722.1:c.4936A>G (AKAP9) XP_011514024.1:p.Ile1646Val
XM_017011642.2:c.10450A>G (AKAP9) XP_016867131.1:p.Ile3484Val
XM_017011643.2:c.10411A>G (AKAP9) XP_016867132.1:p.Ile3471Val
XM_017011644.2:c.10450A>G (AKAP9) XP_016867133.1:p.Ile3484Val
XM_017011645.2:c.10396A>G (AKAP9) XP_016867134.1:p.Ile3466Val
XM_017011646.2:c.10411A>G (AKAP9) XP_016867135.1:p.Ile3471Val
XM_017011647.2:c.10357A>G (AKAP9) XP_016867136.1:p.Ile3453Val
XM_017011648.2:c.10354A>G (AKAP9) XP_016867137.1:p.Ile3452Val
XM_017011649.2:c.10387A>G (AKAP9) XP_016867138.1:p.Ile3463Val
XM_017011650.2:c.10315A>G (AKAP9) XP_016867139.1:p.Ile3439Val
XM_017011651.2:c.10309A>G (AKAP9) XP_016867140.1:p.Ile3437Val
XM_017011652.2:c.10261A>G (AKAP9) XP_016867141.1:p.Ile3421Val
XM_017011653.2:c.10222A>G (AKAP9) XP_016867142.1:p.Ile3408Val
XM_017011654.2:c.10174A>G (AKAP9) XP_016867143.1:p.Ile3392Val
XM_017011655.2:c.10078A>G (AKAP9) XP_016867144.1:p.Ile3360Val
XM_017011656.2:c.10078A>G (AKAP9) XP_016867145.1:p.Ile3360Val
XM_017011657.2:c.6115A>G (AKAP9) XP_016867146.1:p.Ile2039Val
XM_017011658.2:c.4999A>G (AKAP9) XP_016867147.1:p.Ile1667Val
XM_017011659.2:c.4960A>G (AKAP9) XP_016867148.1:p.Ile1654Val
XM_017011660.2:c.4960A>G (AKAP9) XP_016867149.1:p.Ile1654Val
XM_024446631.1:c.10213A>G (AKAP9) XP_024302399.1:p.Ile3405Val