Canonical Allele Identifier: CA4337765
Community Standard Title: NM_005751.5(AKAP9):c.9425G>T (p.Ser3142Ile)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92093163G>T , CM000669.2:g.92093163G>T GRCh38
NC_000007.13:g.91722477G>T , CM000669.1:g.91722477G>T GRCh37
NC_000007.12:g.91560413G>T NCBI36
NG_011623.1:g.157289G>T , LRG_331:g.157289G>T

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9425G>T (AKAP9) MANE Select NP_005742.4:p.Ser3142Ile
ENST00000356239.8:c.9425G>T (AKAP9) MANE Select ENSP00000348573.3:p.Ser3142Ile
NM_001379277.1:c.4070G>T (AKAP9) NP_001366206.1:p.Ser1357Ile
NM_005751.4:c.9425G>T , LRG_331t1:c.9425G>T (AKAP9) NP_005742.4:p.Ser3142Ile
NM_147185.2:c.9401G>T (AKAP9) NP_671714.1:p.Ser3134Ile
NM_147185.3:c.9401G>T (AKAP9) NP_671714.1:p.Ser3134Ile
ENST00000356239.7:c.9425G>T (AKAP9) ENSP00000348573.3:p.Ser3142Ile
ENST00000359028.6:c.9434G>T (AKAP9) ENSP00000351922.3:p.Ser3145Ile
ENST00000359028.7:c.9497G>T (AKAP9) ENSP00000351922.4:p.Ser3166Ile
ENST00000394534.6:c.2963G>T (AKAP9) ENSP00000378042.2:p.Ser988Ile
ENST00000394534.7:c.2918G>T (AKAP9) ENSP00000378042.3:p.Ser973Ile
ENST00000487258.5:n.1175G>T (AKAP9)
ENST00000487692.2:n.1503G>T (AKAP9)
ENST00000491695.2:c.4070G>T (AKAP9) ENSP00000494626.2:p.Ser1357Ile
ENST00000679448.1:c.*305G>T (AKAP9) ENSP00000505889.1:n.*305G>T
ENST00000679457.1:c.9401G>T (AKAP9) ENSP00000505450.1:p.Ser3134Ile
ENST00000679474.1:n.9623G>T (AKAP9)
ENST00000679521.1:c.9371G>T (AKAP9) ENSP00000505456.1:p.Ser3124Ile
ENST00000679821.1:c.9167G>T (AKAP9) ENSP00000506040.1:p.Ser3056Ile
ENST00000680047.1:n.9623G>T (AKAP9)
ENST00000680072.1:c.9248G>T (AKAP9) ENSP00000506581.1:p.Ser3083Ile
ENST00000680181.1:c.9332G>T (AKAP9) ENSP00000505548.1:p.Ser3111Ile
ENST00000680365.1:c.2918G>T (AKAP9) ENSP00000506019.1:p.Ser973Ile
ENST00000680513.1:c.9284G>T (AKAP9) ENSP00000505284.1:p.Ser3095Ile
ENST00000680534.1:c.9464G>T (AKAP9) ENSP00000506674.1:p.Ser3155Ile
ENST00000680766.1:c.9401G>T (AKAP9) ENSP00000505204.1:p.Ser3134Ile
ENST00000680952.1:c.9401G>T (AKAP9) ENSP00000506407.1:p.Ser3134Ile
ENST00000681216.1:c.3185G>T (AKAP9) ENSP00000505551.1:n.3185G>T
ENST00000681412.1:c.9425G>T (AKAP9) ENSP00000506486.1:p.Ser3142Ile
ENST00000681722.1:c.9401G>T (AKAP9) ENSP00000506566.1:p.Ser3134Ile
ENST00000691309.1:c.1352-7561C>A (CYP51A1) ENSP00000510368.1:n.1352-7561C>A
XM_006715827.1:c.9284G>T (AKAP9) XP_006715890.1:p.Ser3095Ile
XM_011515709.1:c.9572G>T (AKAP9) XP_011514011.1:p.Ser3191Ile
XM_011515710.1:c.9596G>T (AKAP9) XP_011514012.1:p.Ser3199Ile
XM_011515711.1:c.9536G>T (AKAP9) XP_011514013.1:p.Ser3179Ile
XM_011515712.1:c.9533G>T (AKAP9) XP_011514014.1:p.Ser3178Ile
XM_011515713.1:c.9518G>T (AKAP9) XP_011514015.1:p.Ser3173Ile
XM_011515714.1:c.9557G>T (AKAP9) XP_011514016.1:p.Ser3186Ile
XM_011515716.1:c.9476G>T (AKAP9) XP_011514018.1:p.Ser3159Ile
XM_011515717.1:c.9431G>T (AKAP9) XP_011514019.1:p.Ser3144Ile
XM_011515718.1:c.9461G>T (AKAP9) XP_011514020.1:p.Ser3154Ile
XM_011515719.1:c.9437G>T (AKAP9) XP_011514021.1:p.Ser3146Ile
XM_011515721.1:c.4085G>T (AKAP9) XP_011514023.1:p.Ser1362Ile
XM_011515722.1:c.4046G>T (AKAP9) XP_011514024.1:p.Ser1349Ile
XM_017011642.2:c.9560G>T (AKAP9) XP_016867131.1:p.Ser3187Ile
XM_017011643.2:c.9521G>T (AKAP9) XP_016867132.1:p.Ser3174Ile
XM_017011644.2:c.9560G>T (AKAP9) XP_016867133.1:p.Ser3187Ile
XM_017011645.2:c.9506G>T (AKAP9) XP_016867134.1:p.Ser3169Ile
XM_017011646.2:c.9521G>T (AKAP9) XP_016867135.1:p.Ser3174Ile
XM_017011647.2:c.9467G>T (AKAP9) XP_016867136.1:p.Ser3156Ile
XM_017011648.2:c.9464G>T (AKAP9) XP_016867137.1:p.Ser3155Ile
XM_017011649.2:c.9497G>T (AKAP9) XP_016867138.1:p.Ser3166Ile
XM_017011650.2:c.9425G>T (AKAP9) XP_016867139.1:p.Ser3142Ile
XM_017011651.2:c.9419G>T (AKAP9) XP_016867140.1:p.Ser3140Ile
XM_017011652.2:c.9371G>T (AKAP9) XP_016867141.1:p.Ser3124Ile
XM_017011653.2:c.9332G>T (AKAP9) XP_016867142.1:p.Ser3111Ile
XM_017011654.2:c.9284G>T (AKAP9) XP_016867143.1:p.Ser3095Ile
XM_017011655.2:c.9188G>T (AKAP9) XP_016867144.1:p.Ser3063Ile
XM_017011656.2:c.9188G>T (AKAP9) XP_016867145.1:p.Ser3063Ile
XM_017011657.2:c.5225G>T (AKAP9) XP_016867146.1:p.Ser1742Ile
XM_017011658.2:c.4109G>T (AKAP9) XP_016867147.1:p.Ser1370Ile
XM_017011659.2:c.4070G>T (AKAP9) XP_016867148.1:p.Ser1357Ile
XM_017011660.2:c.4070G>T (AKAP9) XP_016867149.1:p.Ser1357Ile
XM_024446631.1:c.9323G>T (AKAP9) XP_024302399.1:p.Ser3108Ile