Canonical Allele Identifier: CA4337620
Community Standard Title: NM_005751.5(AKAP9):c.8957C>T (p.Ala2986Val)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92085619C>T , CM000669.2:g.92085619C>T GRCh38
NC_000007.13:g.91714933C>T , CM000669.1:g.91714933C>T GRCh37
NC_000007.12:g.91552869C>T NCBI36
NG_011623.1:g.149745C>T , LRG_331:g.149745C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.8957C>T (AKAP9) MANE Select NP_005742.4:p.Ala2986Val
ENST00000356239.8:c.8957C>T (AKAP9) MANE Select ENSP00000348573.3:p.Ala2986Val
NM_001379277.1:c.3602C>T (AKAP9) NP_001366206.1:p.Ala1201Val
NM_005751.4:c.8957C>T , LRG_331t1:c.8957C>T (AKAP9) NP_005742.4:p.Ala2986Val
NM_147185.2:c.8933C>T (AKAP9) NP_671714.1:p.Ala2978Val
NM_147185.3:c.8933C>T (AKAP9) NP_671714.1:p.Ala2978Val
ENST00000356239.7:c.8957C>T (AKAP9) ENSP00000348573.3:p.Ala2986Val
ENST00000358100.6:c.8816C>T (AKAP9) ENSP00000350813.3:p.Ala2939Val
ENST00000359028.6:c.8966C>T (AKAP9) ENSP00000351922.3:p.Ala2989Val
ENST00000359028.7:c.9029C>T (AKAP9) ENSP00000351922.4:p.Ala3010Val
ENST00000394534.6:c.2495C>T (AKAP9) ENSP00000378042.2:p.Ala832Val
ENST00000394534.7:c.2450C>T (AKAP9) ENSP00000378042.3:p.Ala817Val
ENST00000435423.1:c.391C>T (AKAP9)
ENST00000435423.2:n.797C>T (AKAP9)
ENST00000491695.2:c.3602C>T (AKAP9) ENSP00000494626.2:p.Ala1201Val
ENST00000679448.1:c.8933C>T (AKAP9) ENSP00000505889.1:p.Ala2978Val
ENST00000679457.1:c.8933C>T (AKAP9) ENSP00000505450.1:p.Ala2978Val
ENST00000679474.1:n.9155C>T (AKAP9)
ENST00000679521.1:c.8903C>T (AKAP9) ENSP00000505456.1:p.Ala2968Val
ENST00000679722.1:n.9179C>T (AKAP9)
ENST00000679821.1:c.8699C>T (AKAP9) ENSP00000506040.1:p.Ala2900Val
ENST00000680047.1:n.9155C>T (AKAP9)
ENST00000680072.1:c.8780C>T (AKAP9) ENSP00000506581.1:p.Ala2927Val
ENST00000680181.1:c.8864C>T (AKAP9) ENSP00000505548.1:p.Ala2955Val
ENST00000680365.1:c.2450C>T (AKAP9) ENSP00000506019.1:p.Ala817Val
ENST00000680513.1:c.8816C>T (AKAP9) ENSP00000505284.1:p.Ala2939Val
ENST00000680534.1:c.8996C>T (AKAP9) ENSP00000506674.1:p.Ala2999Val
ENST00000680766.1:c.8933C>T (AKAP9) ENSP00000505204.1:p.Ala2978Val
ENST00000680952.1:c.8933C>T (AKAP9) ENSP00000506407.1:p.Ala2978Val
ENST00000681216.1:c.2294C>T (AKAP9) ENSP00000505551.1:p.Ala765Val
ENST00000681412.1:c.8957C>T (AKAP9) ENSP00000506486.1:p.Ala2986Val
ENST00000681722.1:c.8933C>T (AKAP9) ENSP00000506566.1:p.Ala2978Val
ENST00000691309.1:c.1352-17G>A (CYP51A1) ENSP00000510368.1:n.1352-17G>A
XM_006715827.1:c.8816C>T (AKAP9) XP_006715890.1:p.Ala2939Val
XM_011515709.1:c.9104C>T (AKAP9) XP_011514011.1:p.Ala3035Val
XM_011515710.1:c.9128C>T (AKAP9) XP_011514012.1:p.Ala3043Val
XM_011515711.1:c.9068C>T (AKAP9) XP_011514013.1:p.Ala3023Val
XM_011515712.1:c.9065C>T (AKAP9) XP_011514014.1:p.Ala3022Val
XM_011515713.1:c.9050C>T (AKAP9) XP_011514015.1:p.Ala3017Val
XM_011515714.1:c.9089C>T (AKAP9) XP_011514016.1:p.Ala3030Val
XM_011515716.1:c.9008C>T (AKAP9) XP_011514018.1:p.Ala3003Val
XM_011515717.1:c.8963C>T (AKAP9) XP_011514019.1:p.Ala2988Val
XM_011515718.1:c.8993C>T (AKAP9) XP_011514020.1:p.Ala2998Val
XM_011515719.1:c.8969C>T (AKAP9) XP_011514021.1:p.Ala2990Val
XM_011515720.1:c.8852C>T (AKAP9) XP_011514022.1:p.Ala2951Val
XM_011515721.1:c.3617C>T (AKAP9) XP_011514023.1:p.Ala1206Val
XM_011515722.1:c.3578C>T (AKAP9) XP_011514024.1:p.Ala1193Val
XM_017011642.2:c.9092C>T (AKAP9) XP_016867131.1:p.Ala3031Val
XM_017011643.2:c.9053C>T (AKAP9) XP_016867132.1:p.Ala3018Val
XM_017011644.2:c.9092C>T (AKAP9) XP_016867133.1:p.Ala3031Val
XM_017011645.2:c.9038C>T (AKAP9) XP_016867134.1:p.Ala3013Val
XM_017011646.2:c.9053C>T (AKAP9) XP_016867135.1:p.Ala3018Val
XM_017011647.2:c.8999C>T (AKAP9) XP_016867136.1:p.Ala3000Val
XM_017011648.2:c.8996C>T (AKAP9) XP_016867137.1:p.Ala2999Val
XM_017011649.2:c.9029C>T (AKAP9) XP_016867138.1:p.Ala3010Val
XM_017011650.2:c.8957C>T (AKAP9) XP_016867139.1:p.Ala2986Val
XM_017011651.2:c.8951C>T (AKAP9) XP_016867140.1:p.Ala2984Val
XM_017011652.2:c.9092C>T (AKAP9) XP_016867141.1:p.Ala3031Val
XM_017011653.2:c.8864C>T (AKAP9) XP_016867142.1:p.Ala2955Val
XM_017011654.2:c.8816C>T (AKAP9) XP_016867143.1:p.Ala2939Val
XM_017011655.2:c.8720C>T (AKAP9) XP_016867144.1:p.Ala2907Val
XM_017011656.2:c.8720C>T (AKAP9) XP_016867145.1:p.Ala2907Val
XM_017011657.2:c.4757C>T (AKAP9) XP_016867146.1:p.Ala1586Val
XM_017011658.2:c.3641C>T (AKAP9) XP_016867147.1:p.Ala1214Val
XM_017011659.2:c.3602C>T (AKAP9) XP_016867148.1:p.Ala1201Val
XM_017011660.2:c.3602C>T (AKAP9) XP_016867149.1:p.Ala1201Val
XM_024446631.1:c.8855C>T (AKAP9) XP_024302399.1:p.Ala2952Val