Canonical Allele Identifier: CA4337767
Community Standard Title: NM_005751.5(AKAP9):c.9442A>G (p.Thr3148Ala)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92093180A>G , CM000669.2:g.92093180A>G GRCh38
NC_000007.13:g.91722494A>G , CM000669.1:g.91722494A>G GRCh37
NC_000007.12:g.91560430A>G NCBI36
NG_011623.1:g.157306A>G , LRG_331:g.157306A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9442A>G (AKAP9) MANE Select NP_005742.4:p.Thr3148Ala
ENST00000356239.8:c.9442A>G (AKAP9) MANE Select ENSP00000348573.3:p.Thr3148Ala
NM_001379277.1:c.4087A>G (AKAP9) NP_001366206.1:p.Thr1363Ala
NM_005751.4:c.9442A>G , LRG_331t1:c.9442A>G (AKAP9) NP_005742.4:p.Thr3148Ala
NM_147185.2:c.9418A>G (AKAP9) NP_671714.1:p.Thr3140Ala
NM_147185.3:c.9418A>G (AKAP9) NP_671714.1:p.Thr3140Ala
ENST00000356239.7:c.9442A>G (AKAP9) ENSP00000348573.3:p.Thr3148Ala
ENST00000359028.6:c.9451A>G (AKAP9) ENSP00000351922.3:p.Thr3151Ala
ENST00000359028.7:c.9514A>G (AKAP9) ENSP00000351922.4:p.Thr3172Ala
ENST00000394534.6:c.2980A>G (AKAP9) ENSP00000378042.2:p.Thr994Ala
ENST00000394534.7:c.2935A>G (AKAP9) ENSP00000378042.3:p.Thr979Ala
ENST00000487258.5:n.1192A>G (AKAP9)
ENST00000487692.2:n.1520A>G (AKAP9)
ENST00000491695.2:c.4087A>G (AKAP9) ENSP00000494626.2:p.Thr1363Ala
ENST00000679448.1:c.*322A>G (AKAP9) ENSP00000505889.1:n.*322A>G
ENST00000679457.1:c.9418A>G (AKAP9) ENSP00000505450.1:p.Thr3140Ala
ENST00000679474.1:n.9640A>G (AKAP9)
ENST00000679521.1:c.9388A>G (AKAP9) ENSP00000505456.1:p.Thr3130Ala
ENST00000679821.1:c.9184A>G (AKAP9) ENSP00000506040.1:p.Thr3062Ala
ENST00000680047.1:n.9640A>G (AKAP9)
ENST00000680072.1:c.9265A>G (AKAP9) ENSP00000506581.1:p.Thr3089Ala
ENST00000680181.1:c.9349A>G (AKAP9) ENSP00000505548.1:p.Thr3117Ala
ENST00000680365.1:c.2935A>G (AKAP9) ENSP00000506019.1:p.Thr979Ala
ENST00000680513.1:c.9301A>G (AKAP9) ENSP00000505284.1:p.Thr3101Ala
ENST00000680534.1:c.9481A>G (AKAP9) ENSP00000506674.1:p.Thr3161Ala
ENST00000680766.1:c.9418A>G (AKAP9) ENSP00000505204.1:p.Thr3140Ala
ENST00000680952.1:c.9418A>G (AKAP9) ENSP00000506407.1:p.Thr3140Ala
ENST00000681216.1:c.3202A>G (AKAP9) ENSP00000505551.1:n.3202A>G
ENST00000681412.1:c.9442A>G (AKAP9) ENSP00000506486.1:p.Thr3148Ala
ENST00000681722.1:c.9418A>G (AKAP9) ENSP00000506566.1:p.Thr3140Ala
ENST00000691309.1:c.1352-7578T>C (CYP51A1) ENSP00000510368.1:n.1352-7578T>C
XM_006715827.1:c.9301A>G (AKAP9) XP_006715890.1:p.Thr3101Ala
XM_011515709.1:c.9589A>G (AKAP9) XP_011514011.1:p.Thr3197Ala
XM_011515710.1:c.9613A>G (AKAP9) XP_011514012.1:p.Thr3205Ala
XM_011515711.1:c.9553A>G (AKAP9) XP_011514013.1:p.Thr3185Ala
XM_011515712.1:c.9550A>G (AKAP9) XP_011514014.1:p.Thr3184Ala
XM_011515713.1:c.9535A>G (AKAP9) XP_011514015.1:p.Thr3179Ala
XM_011515714.1:c.9574A>G (AKAP9) XP_011514016.1:p.Thr3192Ala
XM_011515716.1:c.9493A>G (AKAP9) XP_011514018.1:p.Thr3165Ala
XM_011515717.1:c.9448A>G (AKAP9) XP_011514019.1:p.Thr3150Ala
XM_011515718.1:c.9478A>G (AKAP9) XP_011514020.1:p.Thr3160Ala
XM_011515719.1:c.9454A>G (AKAP9) XP_011514021.1:p.Thr3152Ala
XM_011515721.1:c.4102A>G (AKAP9) XP_011514023.1:p.Thr1368Ala
XM_011515722.1:c.4063A>G (AKAP9) XP_011514024.1:p.Thr1355Ala
XM_017011642.2:c.9577A>G (AKAP9) XP_016867131.1:p.Thr3193Ala
XM_017011643.2:c.9538A>G (AKAP9) XP_016867132.1:p.Thr3180Ala
XM_017011644.2:c.9577A>G (AKAP9) XP_016867133.1:p.Thr3193Ala
XM_017011645.2:c.9523A>G (AKAP9) XP_016867134.1:p.Thr3175Ala
XM_017011646.2:c.9538A>G (AKAP9) XP_016867135.1:p.Thr3180Ala
XM_017011647.2:c.9484A>G (AKAP9) XP_016867136.1:p.Thr3162Ala
XM_017011648.2:c.9481A>G (AKAP9) XP_016867137.1:p.Thr3161Ala
XM_017011649.2:c.9514A>G (AKAP9) XP_016867138.1:p.Thr3172Ala
XM_017011650.2:c.9442A>G (AKAP9) XP_016867139.1:p.Thr3148Ala
XM_017011651.2:c.9436A>G (AKAP9) XP_016867140.1:p.Thr3146Ala
XM_017011652.2:c.9388A>G (AKAP9) XP_016867141.1:p.Thr3130Ala
XM_017011653.2:c.9349A>G (AKAP9) XP_016867142.1:p.Thr3117Ala
XM_017011654.2:c.9301A>G (AKAP9) XP_016867143.1:p.Thr3101Ala
XM_017011655.2:c.9205A>G (AKAP9) XP_016867144.1:p.Thr3069Ala
XM_017011656.2:c.9205A>G (AKAP9) XP_016867145.1:p.Thr3069Ala
XM_017011657.2:c.5242A>G (AKAP9) XP_016867146.1:p.Thr1748Ala
XM_017011658.2:c.4126A>G (AKAP9) XP_016867147.1:p.Thr1376Ala
XM_017011659.2:c.4087A>G (AKAP9) XP_016867148.1:p.Thr1363Ala
XM_017011660.2:c.4087A>G (AKAP9) XP_016867149.1:p.Thr1363Ala
XM_024446631.1:c.9340A>G (AKAP9) XP_024302399.1:p.Thr3114Ala