Canonical Allele Identifier: CA4337662
Community Standard Title: NM_005751.5(AKAP9):c.9115A>G (p.Ser3039Gly)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92086318A>G , CM000669.2:g.92086318A>G GRCh38
NC_000007.13:g.91715632A>G , CM000669.1:g.91715632A>G GRCh37
NC_000007.12:g.91553568A>G NCBI36
NG_011623.1:g.150444A>G , LRG_331:g.150444A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9115A>G (AKAP9) MANE Select NP_005742.4:p.Ser3039Gly
ENST00000356239.8:c.9115A>G (AKAP9) MANE Select ENSP00000348573.3:p.Ser3039Gly
NM_001379277.1:c.3760A>G (AKAP9) NP_001366206.1:p.Ser1254Gly
NM_005751.4:c.9115A>G , LRG_331t1:c.9115A>G (AKAP9) NP_005742.4:p.Ser3039Gly
NM_147185.2:c.9091A>G (AKAP9) NP_671714.1:p.Ser3031Gly
NM_147185.3:c.9091A>G (AKAP9) NP_671714.1:p.Ser3031Gly
ENST00000356239.7:c.9115A>G (AKAP9) ENSP00000348573.3:p.Ser3039Gly
ENST00000358100.6:c.8974A>G (AKAP9) ENSP00000350813.3:p.Ser2992Gly
ENST00000359028.6:c.9124A>G (AKAP9) ENSP00000351922.3:p.Ser3042Gly
ENST00000359028.7:c.9187A>G (AKAP9) ENSP00000351922.4:p.Ser3063Gly
ENST00000394534.6:c.2653A>G (AKAP9) ENSP00000378042.2:p.Ser885Gly
ENST00000394534.7:c.2608A>G (AKAP9) ENSP00000378042.3:p.Ser870Gly
ENST00000435423.1:c.549A>G (AKAP9)
ENST00000435423.2:n.955A>G (AKAP9)
ENST00000491695.2:c.3760A>G (AKAP9) ENSP00000494626.2:p.Ser1254Gly
ENST00000679448.1:c.9091A>G (AKAP9) ENSP00000505889.1:p.Ser3031Gly
ENST00000679457.1:c.9091A>G (AKAP9) ENSP00000505450.1:p.Ser3031Gly
ENST00000679474.1:n.9313A>G (AKAP9)
ENST00000679521.1:c.9061A>G (AKAP9) ENSP00000505456.1:p.Ser3021Gly
ENST00000679821.1:c.8857A>G (AKAP9) ENSP00000506040.1:p.Ser2953Gly
ENST00000680047.1:n.9313A>G (AKAP9)
ENST00000680072.1:c.8938A>G (AKAP9) ENSP00000506581.1:p.Ser2980Gly
ENST00000680181.1:c.9022A>G (AKAP9) ENSP00000505548.1:p.Ser3008Gly
ENST00000680365.1:c.2608A>G (AKAP9) ENSP00000506019.1:p.Ser870Gly
ENST00000680513.1:c.8974A>G (AKAP9) ENSP00000505284.1:p.Ser2992Gly
ENST00000680534.1:c.9154A>G (AKAP9) ENSP00000506674.1:p.Ser3052Gly
ENST00000680766.1:c.9091A>G (AKAP9) ENSP00000505204.1:p.Ser3031Gly
ENST00000680952.1:c.9091A>G (AKAP9) ENSP00000506407.1:p.Ser3031Gly
ENST00000681216.1:c.2452A>G (AKAP9) ENSP00000505551.1:p.Ser818Gly
ENST00000681412.1:c.9115A>G (AKAP9) ENSP00000506486.1:p.Ser3039Gly
ENST00000681722.1:c.9091A>G (AKAP9) ENSP00000506566.1:p.Ser3031Gly
ENST00000691309.1:c.1352-716T>C (CYP51A1) ENSP00000510368.1:n.1352-716T>C
XM_006715827.1:c.8974A>G (AKAP9) XP_006715890.1:p.Ser2992Gly
XM_011515709.1:c.9262A>G (AKAP9) XP_011514011.1:p.Ser3088Gly
XM_011515710.1:c.9286A>G (AKAP9) XP_011514012.1:p.Ser3096Gly
XM_011515711.1:c.9226A>G (AKAP9) XP_011514013.1:p.Ser3076Gly
XM_011515712.1:c.9223A>G (AKAP9) XP_011514014.1:p.Ser3075Gly
XM_011515713.1:c.9208A>G (AKAP9) XP_011514015.1:p.Ser3070Gly
XM_011515714.1:c.9247A>G (AKAP9) XP_011514016.1:p.Ser3083Gly
XM_011515716.1:c.9166A>G (AKAP9) XP_011514018.1:p.Ser3056Gly
XM_011515717.1:c.9121A>G (AKAP9) XP_011514019.1:p.Ser3041Gly
XM_011515718.1:c.9151A>G (AKAP9) XP_011514020.1:p.Ser3051Gly
XM_011515719.1:c.9127A>G (AKAP9) XP_011514021.1:p.Ser3043Gly
XM_011515720.1:c.9010A>G (AKAP9) XP_011514022.1:p.Ser3004Gly
XM_011515721.1:c.3775A>G (AKAP9) XP_011514023.1:p.Ser1259Gly
XM_011515722.1:c.3736A>G (AKAP9) XP_011514024.1:p.Ser1246Gly
XM_017011642.2:c.9250A>G (AKAP9) XP_016867131.1:p.Ser3084Gly
XM_017011643.2:c.9211A>G (AKAP9) XP_016867132.1:p.Ser3071Gly
XM_017011644.2:c.9250A>G (AKAP9) XP_016867133.1:p.Ser3084Gly
XM_017011645.2:c.9196A>G (AKAP9) XP_016867134.1:p.Ser3066Gly
XM_017011646.2:c.9211A>G (AKAP9) XP_016867135.1:p.Ser3071Gly
XM_017011647.2:c.9157A>G (AKAP9) XP_016867136.1:p.Ser3053Gly
XM_017011648.2:c.9154A>G (AKAP9) XP_016867137.1:p.Ser3052Gly
XM_017011649.2:c.9187A>G (AKAP9) XP_016867138.1:p.Ser3063Gly
XM_017011650.2:c.9115A>G (AKAP9) XP_016867139.1:p.Ser3039Gly
XM_017011651.2:c.9109A>G (AKAP9) XP_016867140.1:p.Ser3037Gly
XM_017011652.2:c.9159+632A>G (AKAP9) XP_016867141.1:n.9159+632A>G
XM_017011653.2:c.9022A>G (AKAP9) XP_016867142.1:p.Ser3008Gly
XM_017011654.2:c.8974A>G (AKAP9) XP_016867143.1:p.Ser2992Gly
XM_017011655.2:c.8878A>G (AKAP9) XP_016867144.1:p.Ser2960Gly
XM_017011656.2:c.8878A>G (AKAP9) XP_016867145.1:p.Ser2960Gly
XM_017011657.2:c.4915A>G (AKAP9) XP_016867146.1:p.Ser1639Gly
XM_017011658.2:c.3799A>G (AKAP9) XP_016867147.1:p.Ser1267Gly
XM_017011659.2:c.3760A>G (AKAP9) XP_016867148.1:p.Ser1254Gly
XM_017011660.2:c.3760A>G (AKAP9) XP_016867149.1:p.Ser1254Gly
XM_024446631.1:c.9013A>G (AKAP9) XP_024302399.1:p.Ser3005Gly