Canonical Allele Identifier: CA368152232
Community Standard Title: NM_005751.5(AKAP9):c.9952A>G (p.Arg3318Gly)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92096911A>G , CM000669.2:g.92096911A>G GRCh38
NC_000007.13:g.91726225A>G , CM000669.1:g.91726225A>G GRCh37
NC_000007.12:g.91564161A>G NCBI36
NG_011623.1:g.161037A>G , LRG_331:g.161037A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9952A>G (AKAP9) MANE Select NP_005742.4:p.Arg3318Gly
ENST00000356239.8:c.9952A>G (AKAP9) MANE Select ENSP00000348573.3:p.Arg3318Gly
NM_001379277.1:c.4597A>G (AKAP9) NP_001366206.1:p.Arg1533Gly
NM_005751.4:c.9952A>G , LRG_331t1:c.9952A>G (AKAP9) NP_005742.4:p.Arg3318Gly
NM_147185.2:c.9928A>G (AKAP9) NP_671714.1:p.Arg3310Gly
NM_147185.3:c.9928A>G (AKAP9) NP_671714.1:p.Arg3310Gly
ENST00000356239.7:c.9952A>G (AKAP9) ENSP00000348573.3:p.Arg3318Gly
ENST00000359028.6:c.9961A>G (AKAP9) ENSP00000351922.3:p.Arg3321Gly
ENST00000359028.7:c.10024A>G (AKAP9) ENSP00000351922.4:p.Arg3342Gly
ENST00000394534.6:c.3490A>G (AKAP9) ENSP00000378042.2:p.Arg1164Gly
ENST00000394534.7:c.3390+55A>G (AKAP9) ENSP00000378042.3:n.3390+55A>G
ENST00000487258.5:n.1702A>G (AKAP9)
ENST00000487692.2:n.2030A>G (AKAP9)
ENST00000491695.2:c.4597A>G (AKAP9) ENSP00000494626.2:p.Arg1533Gly
ENST00000679448.1:c.*832A>G (AKAP9) ENSP00000505889.1:n.*832A>G
ENST00000679457.1:c.9928A>G (AKAP9) ENSP00000505450.1:p.Arg3310Gly
ENST00000679474.1:n.10150A>G (AKAP9)
ENST00000679521.1:c.9898A>G (AKAP9) ENSP00000505456.1:p.Arg3300Gly
ENST00000679821.1:c.9694A>G (AKAP9) ENSP00000506040.1:p.Arg3232Gly
ENST00000680047.1:n.10150A>G (AKAP9)
ENST00000680072.1:c.9775A>G (AKAP9) ENSP00000506581.1:p.Arg3259Gly
ENST00000680181.1:c.9859A>G (AKAP9) ENSP00000505548.1:p.Arg3287Gly
ENST00000680365.1:c.3591A>G (AKAP9) ENSP00000506019.1:n.3591A>G
ENST00000680513.1:c.9811A>G (AKAP9) ENSP00000505284.1:p.Arg3271Gly
ENST00000680534.1:c.9991A>G (AKAP9) ENSP00000506674.1:p.Arg3331Gly
ENST00000680766.1:c.9928A>G (AKAP9) ENSP00000505204.1:p.Arg3310Gly
ENST00000680952.1:c.9928A>G (AKAP9) ENSP00000506407.1:p.Arg3310Gly
ENST00000681216.1:c.3712A>G (AKAP9) ENSP00000505551.1:n.3712A>G
ENST00000681412.1:c.9952A>G (AKAP9) ENSP00000506486.1:p.Arg3318Gly
ENST00000681722.1:c.9928A>G (AKAP9) ENSP00000506566.1:p.Arg3310Gly
ENST00000691309.1:c.1352-11309T>C (CYP51A1) ENSP00000510368.1:n.1352-11309T>C
XM_006715827.1:c.9811A>G (AKAP9) XP_006715890.1:p.Arg3271Gly
XM_011515709.1:c.10099A>G (AKAP9) XP_011514011.1:p.Arg3367Gly
XM_011515710.1:c.10123A>G (AKAP9) XP_011514012.1:p.Arg3375Gly
XM_011515711.1:c.10063A>G (AKAP9) XP_011514013.1:p.Arg3355Gly
XM_011515712.1:c.10060A>G (AKAP9) XP_011514014.1:p.Arg3354Gly
XM_011515713.1:c.10045A>G (AKAP9) XP_011514015.1:p.Arg3349Gly
XM_011515714.1:c.10084A>G (AKAP9) XP_011514016.1:p.Arg3362Gly
XM_011515716.1:c.10003A>G (AKAP9) XP_011514018.1:p.Arg3335Gly
XM_011515717.1:c.9958A>G (AKAP9) XP_011514019.1:p.Arg3320Gly
XM_011515718.1:c.9988A>G (AKAP9) XP_011514020.1:p.Arg3330Gly
XM_011515719.1:c.9964A>G (AKAP9) XP_011514021.1:p.Arg3322Gly
XM_011515721.1:c.4612A>G (AKAP9) XP_011514023.1:p.Arg1538Gly
XM_011515722.1:c.4573A>G (AKAP9) XP_011514024.1:p.Arg1525Gly
XM_017011642.2:c.10087A>G (AKAP9) XP_016867131.1:p.Arg3363Gly
XM_017011643.2:c.10048A>G (AKAP9) XP_016867132.1:p.Arg3350Gly
XM_017011644.2:c.10087A>G (AKAP9) XP_016867133.1:p.Arg3363Gly
XM_017011645.2:c.10033A>G (AKAP9) XP_016867134.1:p.Arg3345Gly
XM_017011646.2:c.10048A>G (AKAP9) XP_016867135.1:p.Arg3350Gly
XM_017011647.2:c.9994A>G (AKAP9) XP_016867136.1:p.Arg3332Gly
XM_017011648.2:c.9991A>G (AKAP9) XP_016867137.1:p.Arg3331Gly
XM_017011649.2:c.10024A>G (AKAP9) XP_016867138.1:p.Arg3342Gly
XM_017011650.2:c.9952A>G (AKAP9) XP_016867139.1:p.Arg3318Gly
XM_017011651.2:c.9946A>G (AKAP9) XP_016867140.1:p.Arg3316Gly
XM_017011652.2:c.9898A>G (AKAP9) XP_016867141.1:p.Arg3300Gly
XM_017011653.2:c.9859A>G (AKAP9) XP_016867142.1:p.Arg3287Gly
XM_017011654.2:c.9811A>G (AKAP9) XP_016867143.1:p.Arg3271Gly
XM_017011655.2:c.9715A>G (AKAP9) XP_016867144.1:p.Arg3239Gly
XM_017011656.2:c.9715A>G (AKAP9) XP_016867145.1:p.Arg3239Gly
XM_017011657.2:c.5752A>G (AKAP9) XP_016867146.1:p.Arg1918Gly
XM_017011658.2:c.4636A>G (AKAP9) XP_016867147.1:p.Arg1546Gly
XM_017011659.2:c.4597A>G (AKAP9) XP_016867148.1:p.Arg1533Gly
XM_017011660.2:c.4597A>G (AKAP9) XP_016867149.1:p.Arg1533Gly
XM_024446631.1:c.9850A>G (AKAP9) XP_024302399.1:p.Arg3284Gly