Canonical Allele Identifier: CA4337853
Community Standard Title: NM_005751.5(AKAP9):c.9830T>G (p.Ile3277Arg)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92096789T>G , CM000669.2:g.92096789T>G GRCh38
NC_000007.13:g.91726103T>G , CM000669.1:g.91726103T>G GRCh37
NC_000007.12:g.91564039T>G NCBI36
NG_011623.1:g.160915T>G , LRG_331:g.160915T>G

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9830T>G (AKAP9) MANE Select NP_005742.4:p.Ile3277Arg
ENST00000356239.8:c.9830T>G (AKAP9) MANE Select ENSP00000348573.3:p.Ile3277Arg
NM_001379277.1:c.4475T>G (AKAP9) NP_001366206.1:p.Ile1492Arg
NM_005751.4:c.9830T>G , LRG_331t1:c.9830T>G (AKAP9) NP_005742.4:p.Ile3277Arg
NM_147185.2:c.9806T>G (AKAP9) NP_671714.1:p.Ile3269Arg
NM_147185.3:c.9806T>G (AKAP9) NP_671714.1:p.Ile3269Arg
ENST00000356239.7:c.9830T>G (AKAP9) ENSP00000348573.3:p.Ile3277Arg
ENST00000359028.6:c.9839T>G (AKAP9) ENSP00000351922.3:p.Ile3280Arg
ENST00000359028.7:c.9902T>G (AKAP9) ENSP00000351922.4:p.Ile3301Arg
ENST00000394534.6:c.3368T>G (AKAP9) ENSP00000378042.2:p.Ile1123Arg
ENST00000394534.7:c.3323T>G (AKAP9) ENSP00000378042.3:p.Ile1108Arg
ENST00000487258.5:n.1580T>G (AKAP9)
ENST00000487692.2:n.1908T>G (AKAP9)
ENST00000491695.2:c.4475T>G (AKAP9) ENSP00000494626.2:p.Ile1492Arg
ENST00000679448.1:c.*710T>G (AKAP9) ENSP00000505889.1:n.*710T>G
ENST00000679457.1:c.9806T>G (AKAP9) ENSP00000505450.1:p.Ile3269Arg
ENST00000679474.1:n.10028T>G (AKAP9)
ENST00000679521.1:c.9776T>G (AKAP9) ENSP00000505456.1:p.Ile3259Arg
ENST00000679821.1:c.9572T>G (AKAP9) ENSP00000506040.1:p.Ile3191Arg
ENST00000680047.1:n.10028T>G (AKAP9)
ENST00000680072.1:c.9653T>G (AKAP9) ENSP00000506581.1:p.Ile3218Arg
ENST00000680181.1:c.9737T>G (AKAP9) ENSP00000505548.1:p.Ile3246Arg
ENST00000680365.1:c.3469T>G (AKAP9) ENSP00000506019.1:n.3469T>G
ENST00000680513.1:c.9689T>G (AKAP9) ENSP00000505284.1:p.Ile3230Arg
ENST00000680534.1:c.9869T>G (AKAP9) ENSP00000506674.1:p.Ile3290Arg
ENST00000680766.1:c.9806T>G (AKAP9) ENSP00000505204.1:p.Ile3269Arg
ENST00000680952.1:c.9806T>G (AKAP9) ENSP00000506407.1:p.Ile3269Arg
ENST00000681216.1:c.3590T>G (AKAP9) ENSP00000505551.1:n.3590T>G
ENST00000681412.1:c.9830T>G (AKAP9) ENSP00000506486.1:p.Ile3277Arg
ENST00000681722.1:c.9806T>G (AKAP9) ENSP00000506566.1:p.Ile3269Arg
ENST00000691309.1:c.1352-11187A>C (CYP51A1) ENSP00000510368.1:n.1352-11187A>C
XM_006715827.1:c.9689T>G (AKAP9) XP_006715890.1:p.Ile3230Arg
XM_011515709.1:c.9977T>G (AKAP9) XP_011514011.1:p.Ile3326Arg
XM_011515710.1:c.10001T>G (AKAP9) XP_011514012.1:p.Ile3334Arg
XM_011515711.1:c.9941T>G (AKAP9) XP_011514013.1:p.Ile3314Arg
XM_011515712.1:c.9938T>G (AKAP9) XP_011514014.1:p.Ile3313Arg
XM_011515713.1:c.9923T>G (AKAP9) XP_011514015.1:p.Ile3308Arg
XM_011515714.1:c.9962T>G (AKAP9) XP_011514016.1:p.Ile3321Arg
XM_011515716.1:c.9881T>G (AKAP9) XP_011514018.1:p.Ile3294Arg
XM_011515717.1:c.9836T>G (AKAP9) XP_011514019.1:p.Ile3279Arg
XM_011515718.1:c.9866T>G (AKAP9) XP_011514020.1:p.Ile3289Arg
XM_011515719.1:c.9842T>G (AKAP9) XP_011514021.1:p.Ile3281Arg
XM_011515721.1:c.4490T>G (AKAP9) XP_011514023.1:p.Ile1497Arg
XM_011515722.1:c.4451T>G (AKAP9) XP_011514024.1:p.Ile1484Arg
XM_017011642.2:c.9965T>G (AKAP9) XP_016867131.1:p.Ile3322Arg
XM_017011643.2:c.9926T>G (AKAP9) XP_016867132.1:p.Ile3309Arg
XM_017011644.2:c.9965T>G (AKAP9) XP_016867133.1:p.Ile3322Arg
XM_017011645.2:c.9911T>G (AKAP9) XP_016867134.1:p.Ile3304Arg
XM_017011646.2:c.9926T>G (AKAP9) XP_016867135.1:p.Ile3309Arg
XM_017011647.2:c.9872T>G (AKAP9) XP_016867136.1:p.Ile3291Arg
XM_017011648.2:c.9869T>G (AKAP9) XP_016867137.1:p.Ile3290Arg
XM_017011649.2:c.9902T>G (AKAP9) XP_016867138.1:p.Ile3301Arg
XM_017011650.2:c.9830T>G (AKAP9) XP_016867139.1:p.Ile3277Arg
XM_017011651.2:c.9824T>G (AKAP9) XP_016867140.1:p.Ile3275Arg
XM_017011652.2:c.9776T>G (AKAP9) XP_016867141.1:p.Ile3259Arg
XM_017011653.2:c.9737T>G (AKAP9) XP_016867142.1:p.Ile3246Arg
XM_017011654.2:c.9689T>G (AKAP9) XP_016867143.1:p.Ile3230Arg
XM_017011655.2:c.9593T>G (AKAP9) XP_016867144.1:p.Ile3198Arg
XM_017011656.2:c.9593T>G (AKAP9) XP_016867145.1:p.Ile3198Arg
XM_017011657.2:c.5630T>G (AKAP9) XP_016867146.1:p.Ile1877Arg
XM_017011658.2:c.4514T>G (AKAP9) XP_016867147.1:p.Ile1505Arg
XM_017011659.2:c.4475T>G (AKAP9) XP_016867148.1:p.Ile1492Arg
XM_017011660.2:c.4475T>G (AKAP9) XP_016867149.1:p.Ile1492Arg
XM_024446631.1:c.9728T>G (AKAP9) XP_024302399.1:p.Ile3243Arg