Canonical Allele Identifier: CA368146487
Community Standard Title: NM_005751.5(AKAP9):c.9376A>G (p.Ile3126Val)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92093114A>G , CM000669.2:g.92093114A>G GRCh38
NC_000007.13:g.91722428A>G , CM000669.1:g.91722428A>G GRCh37
NC_000007.12:g.91560364A>G NCBI36
NG_011623.1:g.157240A>G , LRG_331:g.157240A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9376A>G (AKAP9) MANE Select NP_005742.4:p.Ile3126Val
ENST00000356239.8:c.9376A>G (AKAP9) MANE Select ENSP00000348573.3:p.Ile3126Val
NM_001379277.1:c.4021A>G (AKAP9) NP_001366206.1:p.Ile1341Val
NM_005751.4:c.9376A>G , LRG_331t1:c.9376A>G (AKAP9) NP_005742.4:p.Ile3126Val
NM_147185.2:c.9352A>G (AKAP9) NP_671714.1:p.Ile3118Val
NM_147185.3:c.9352A>G (AKAP9) NP_671714.1:p.Ile3118Val
ENST00000356239.7:c.9376A>G (AKAP9) ENSP00000348573.3:p.Ile3126Val
ENST00000359028.6:c.9385A>G (AKAP9) ENSP00000351922.3:p.Ile3129Val
ENST00000359028.7:c.9448A>G (AKAP9) ENSP00000351922.4:p.Ile3150Val
ENST00000394534.6:c.2914A>G (AKAP9) ENSP00000378042.2:p.Ile972Val
ENST00000394534.7:c.2869A>G (AKAP9) ENSP00000378042.3:p.Ile957Val
ENST00000487258.5:n.1126A>G (AKAP9)
ENST00000487692.2:n.1454A>G (AKAP9)
ENST00000491695.2:c.4021A>G (AKAP9) ENSP00000494626.2:p.Ile1341Val
ENST00000679448.1:c.*256A>G (AKAP9) ENSP00000505889.1:n.*256A>G
ENST00000679457.1:c.9352A>G (AKAP9) ENSP00000505450.1:p.Ile3118Val
ENST00000679474.1:n.9574A>G (AKAP9)
ENST00000679521.1:c.9322A>G (AKAP9) ENSP00000505456.1:p.Ile3108Val
ENST00000679821.1:c.9118A>G (AKAP9) ENSP00000506040.1:p.Ile3040Val
ENST00000680047.1:n.9574A>G (AKAP9)
ENST00000680072.1:c.9199A>G (AKAP9) ENSP00000506581.1:p.Ile3067Val
ENST00000680181.1:c.9283A>G (AKAP9) ENSP00000505548.1:p.Ile3095Val
ENST00000680365.1:c.2869A>G (AKAP9) ENSP00000506019.1:p.Ile957Val
ENST00000680513.1:c.9235A>G (AKAP9) ENSP00000505284.1:p.Ile3079Val
ENST00000680534.1:c.9415A>G (AKAP9) ENSP00000506674.1:p.Ile3139Val
ENST00000680766.1:c.9352A>G (AKAP9) ENSP00000505204.1:p.Ile3118Val
ENST00000680952.1:c.9352A>G (AKAP9) ENSP00000506407.1:p.Ile3118Val
ENST00000681216.1:c.3136A>G (AKAP9) ENSP00000505551.1:n.3136A>G
ENST00000681412.1:c.9376A>G (AKAP9) ENSP00000506486.1:p.Ile3126Val
ENST00000681722.1:c.9352A>G (AKAP9) ENSP00000506566.1:p.Ile3118Val
ENST00000691309.1:c.1352-7512T>C (CYP51A1) ENSP00000510368.1:n.1352-7512T>C
XM_006715827.1:c.9235A>G (AKAP9) XP_006715890.1:p.Ile3079Val
XM_011515709.1:c.9523A>G (AKAP9) XP_011514011.1:p.Ile3175Val
XM_011515710.1:c.9547A>G (AKAP9) XP_011514012.1:p.Ile3183Val
XM_011515711.1:c.9487A>G (AKAP9) XP_011514013.1:p.Ile3163Val
XM_011515712.1:c.9484A>G (AKAP9) XP_011514014.1:p.Ile3162Val
XM_011515713.1:c.9469A>G (AKAP9) XP_011514015.1:p.Ile3157Val
XM_011515714.1:c.9508A>G (AKAP9) XP_011514016.1:p.Ile3170Val
XM_011515716.1:c.9427A>G (AKAP9) XP_011514018.1:p.Ile3143Val
XM_011515717.1:c.9382A>G (AKAP9) XP_011514019.1:p.Ile3128Val
XM_011515718.1:c.9412A>G (AKAP9) XP_011514020.1:p.Ile3138Val
XM_011515719.1:c.9388A>G (AKAP9) XP_011514021.1:p.Ile3130Val
XM_011515721.1:c.4036A>G (AKAP9) XP_011514023.1:p.Ile1346Val
XM_011515722.1:c.3997A>G (AKAP9) XP_011514024.1:p.Ile1333Val
XM_017011642.2:c.9511A>G (AKAP9) XP_016867131.1:p.Ile3171Val
XM_017011643.2:c.9472A>G (AKAP9) XP_016867132.1:p.Ile3158Val
XM_017011644.2:c.9511A>G (AKAP9) XP_016867133.1:p.Ile3171Val
XM_017011645.2:c.9457A>G (AKAP9) XP_016867134.1:p.Ile3153Val
XM_017011646.2:c.9472A>G (AKAP9) XP_016867135.1:p.Ile3158Val
XM_017011647.2:c.9418A>G (AKAP9) XP_016867136.1:p.Ile3140Val
XM_017011648.2:c.9415A>G (AKAP9) XP_016867137.1:p.Ile3139Val
XM_017011649.2:c.9448A>G (AKAP9) XP_016867138.1:p.Ile3150Val
XM_017011650.2:c.9376A>G (AKAP9) XP_016867139.1:p.Ile3126Val
XM_017011651.2:c.9370A>G (AKAP9) XP_016867140.1:p.Ile3124Val
XM_017011652.2:c.9322A>G (AKAP9) XP_016867141.1:p.Ile3108Val
XM_017011653.2:c.9283A>G (AKAP9) XP_016867142.1:p.Ile3095Val
XM_017011654.2:c.9235A>G (AKAP9) XP_016867143.1:p.Ile3079Val
XM_017011655.2:c.9139A>G (AKAP9) XP_016867144.1:p.Ile3047Val
XM_017011656.2:c.9139A>G (AKAP9) XP_016867145.1:p.Ile3047Val
XM_017011657.2:c.5176A>G (AKAP9) XP_016867146.1:p.Ile1726Val
XM_017011658.2:c.4060A>G (AKAP9) XP_016867147.1:p.Ile1354Val
XM_017011659.2:c.4021A>G (AKAP9) XP_016867148.1:p.Ile1341Val
XM_017011660.2:c.4021A>G (AKAP9) XP_016867149.1:p.Ile1341Val
XM_024446631.1:c.9274A>G (AKAP9) XP_024302399.1:p.Ile3092Val