Canonical Allele Identifier: CA4338143
Community Standard Title: NM_005751.5(AKAP9):c.11305G>A (p.Val3769Ile)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92102801G>A , CM000669.2:g.92102801G>A GRCh38
NC_000007.13:g.91732115G>A , CM000669.1:g.91732115G>A GRCh37
NC_000007.12:g.91570051G>A NCBI36
NG_011623.1:g.166927G>A , LRG_331:g.166927G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.11305G>A (AKAP9) MANE Select NP_005742.4:p.Val3769Ile
ENST00000356239.8:c.11305G>A (AKAP9) MANE Select ENSP00000348573.3:p.Val3769Ile
NM_001379277.1:c.5950G>A (AKAP9) NP_001366206.1:p.Val1984Ile
NM_005751.4:c.11305G>A , LRG_331t1:c.11305G>A (AKAP9) NP_005742.4:p.Val3769Ile
NM_147185.2:c.11281G>A (AKAP9) NP_671714.1:p.Val3761Ile
NM_147185.3:c.11281G>A (AKAP9) NP_671714.1:p.Val3761Ile
ENST00000356239.7:c.11305G>A (AKAP9) ENSP00000348573.3:p.Val3769Ile
ENST00000359028.6:c.11314G>A (AKAP9) ENSP00000351922.3:p.Val3772Ile
ENST00000359028.7:c.11377G>A (AKAP9) ENSP00000351922.4:p.Val3793Ile
ENST00000394534.6:c.4843G>A (AKAP9) ENSP00000378042.2:p.Val1615Ile
ENST00000394534.7:c.4297G>A (AKAP9) ENSP00000378042.3:p.Val1433Ile
ENST00000463118.1:n.560G>A (AKAP9)
ENST00000463118.2:n.560G>A (AKAP9)
ENST00000486313.1:n.213G>A (AKAP9)
ENST00000486313.2:c.793G>A (AKAP9) ENSP00000505389.1:p.Val265Ile
ENST00000487258.5:n.3055G>A (AKAP9)
ENST00000487692.2:n.3175+1745G>A (AKAP9)
ENST00000491695.2:c.5950G>A (AKAP9) ENSP00000494626.2:p.Val1984Ile
ENST00000679448.1:c.*2185G>A (AKAP9) ENSP00000505889.1:n.*2185G>A
ENST00000679457.1:c.11281G>A (AKAP9) ENSP00000505450.1:p.Val3761Ile
ENST00000679474.1:n.12489G>A (AKAP9)
ENST00000679521.1:c.11251G>A (AKAP9) ENSP00000505456.1:p.Val3751Ile
ENST00000679821.1:c.11047G>A (AKAP9) ENSP00000506040.1:p.Val3683Ile
ENST00000680047.1:n.12975G>A (AKAP9)
ENST00000680072.1:c.11128G>A (AKAP9) ENSP00000506581.1:p.Val3710Ile
ENST00000680181.1:c.11212G>A (AKAP9) ENSP00000505548.1:p.Val3738Ile
ENST00000680365.1:c.4944G>A (AKAP9) ENSP00000506019.1:n.4944G>A
ENST00000680513.1:c.11164G>A (AKAP9) ENSP00000505284.1:p.Val3722Ile
ENST00000680534.1:c.11344G>A (AKAP9) ENSP00000506674.1:p.Val3782Ile
ENST00000680766.1:c.11281G>A (AKAP9) ENSP00000505204.1:p.Val3761Ile
ENST00000680952.1:c.11281G>A (AKAP9) ENSP00000506407.1:p.Val3761Ile
ENST00000681216.1:c.5065G>A (AKAP9) ENSP00000505551.1:n.5065G>A
ENST00000681412.1:c.11305G>A (AKAP9) ENSP00000506486.1:p.Val3769Ile
ENST00000681722.1:c.11281G>A (AKAP9) ENSP00000506566.1:p.Val3761Ile
ENST00000691309.1:c.1351+14243C>T (CYP51A1) ENSP00000510368.1:n.1351+14243C>T
XM_006715827.1:c.11164G>A (AKAP9) XP_006715890.1:p.Val3722Ile
XM_011515709.1:c.11452G>A (AKAP9) XP_011514011.1:p.Val3818Ile
XM_011515710.1:c.11476G>A (AKAP9) XP_011514012.1:p.Val3826Ile
XM_011515711.1:c.11416G>A (AKAP9) XP_011514013.1:p.Val3806Ile
XM_011515712.1:c.11413G>A (AKAP9) XP_011514014.1:p.Val3805Ile
XM_011515713.1:c.11398G>A (AKAP9) XP_011514015.1:p.Val3800Ile
XM_011515714.1:c.11437G>A (AKAP9) XP_011514016.1:p.Val3813Ile
XM_011515716.1:c.11356G>A (AKAP9) XP_011514018.1:p.Val3786Ile
XM_011515717.1:c.11311G>A (AKAP9) XP_011514019.1:p.Val3771Ile
XM_011515718.1:c.11341G>A (AKAP9) XP_011514020.1:p.Val3781Ile
XM_011515719.1:c.11317G>A (AKAP9) XP_011514021.1:p.Val3773Ile
XM_011515721.1:c.5965G>A (AKAP9) XP_011514023.1:p.Val1989Ile
XM_011515722.1:c.5926G>A (AKAP9) XP_011514024.1:p.Val1976Ile
XM_017011642.2:c.11440G>A (AKAP9) XP_016867131.1:p.Val3814Ile
XM_017011643.2:c.11401G>A (AKAP9) XP_016867132.1:p.Val3801Ile
XM_017011644.2:c.11440G>A (AKAP9) XP_016867133.1:p.Val3814Ile
XM_017011645.2:c.11386G>A (AKAP9) XP_016867134.1:p.Val3796Ile
XM_017011646.2:c.11401G>A (AKAP9) XP_016867135.1:p.Val3801Ile
XM_017011647.2:c.11347G>A (AKAP9) XP_016867136.1:p.Val3783Ile
XM_017011648.2:c.11344G>A (AKAP9) XP_016867137.1:p.Val3782Ile
XM_017011649.2:c.11377G>A (AKAP9) XP_016867138.1:p.Val3793Ile
XM_017011650.2:c.11305G>A (AKAP9) XP_016867139.1:p.Val3769Ile
XM_017011651.2:c.11299G>A (AKAP9) XP_016867140.1:p.Val3767Ile
XM_017011652.2:c.11251G>A (AKAP9) XP_016867141.1:p.Val3751Ile
XM_017011653.2:c.11212G>A (AKAP9) XP_016867142.1:p.Val3738Ile
XM_017011654.2:c.11164G>A (AKAP9) XP_016867143.1:p.Val3722Ile
XM_017011655.2:c.11068G>A (AKAP9) XP_016867144.1:p.Val3690Ile
XM_017011656.2:c.11068G>A (AKAP9) XP_016867145.1:p.Val3690Ile
XM_017011657.2:c.7105G>A (AKAP9) XP_016867146.1:p.Val2369Ile
XM_017011658.2:c.5989G>A (AKAP9) XP_016867147.1:p.Val1997Ile
XM_017011659.2:c.5950G>A (AKAP9) XP_016867148.1:p.Val1984Ile
XM_017011660.2:c.5950G>A (AKAP9) XP_016867149.1:p.Val1984Ile
XM_024446631.1:c.11203G>A (AKAP9) XP_024302399.1:p.Val3735Ile