Canonical Allele Identifier: CA368148115
Community Standard Title: NM_005751.5(AKAP9):c.9478G>A (p.Val3160Met)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92093216G>A , CM000669.2:g.92093216G>A GRCh38
NC_000007.13:g.91722530G>A , CM000669.1:g.91722530G>A GRCh37
NC_000007.12:g.91560466G>A NCBI36
NG_011623.1:g.157342G>A , LRG_331:g.157342G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9478G>A (AKAP9) MANE Select NP_005742.4:p.Val3160Met
ENST00000356239.8:c.9478G>A (AKAP9) MANE Select ENSP00000348573.3:p.Val3160Met
NM_001379277.1:c.4123G>A (AKAP9) NP_001366206.1:p.Val1375Met
NM_005751.4:c.9478G>A , LRG_331t1:c.9478G>A (AKAP9) NP_005742.4:p.Val3160Met
NM_147185.2:c.9454G>A (AKAP9) NP_671714.1:p.Val3152Met
NM_147185.3:c.9454G>A (AKAP9) NP_671714.1:p.Val3152Met
ENST00000356239.7:c.9478G>A (AKAP9) ENSP00000348573.3:p.Val3160Met
ENST00000359028.6:c.9487G>A (AKAP9) ENSP00000351922.3:p.Val3163Met
ENST00000359028.7:c.9550G>A (AKAP9) ENSP00000351922.4:p.Val3184Met
ENST00000394534.6:c.3016G>A (AKAP9) ENSP00000378042.2:p.Val1006Met
ENST00000394534.7:c.2971G>A (AKAP9) ENSP00000378042.3:p.Val991Met
ENST00000487258.5:n.1228G>A (AKAP9)
ENST00000487692.2:n.1556G>A (AKAP9)
ENST00000491695.2:c.4123G>A (AKAP9) ENSP00000494626.2:p.Val1375Met
ENST00000679448.1:c.*358G>A (AKAP9) ENSP00000505889.1:n.*358G>A
ENST00000679457.1:c.9454G>A (AKAP9) ENSP00000505450.1:p.Val3152Met
ENST00000679474.1:n.9676G>A (AKAP9)
ENST00000679521.1:c.9424G>A (AKAP9) ENSP00000505456.1:p.Val3142Met
ENST00000679821.1:c.9220G>A (AKAP9) ENSP00000506040.1:p.Val3074Met
ENST00000680047.1:n.9676G>A (AKAP9)
ENST00000680072.1:c.9301G>A (AKAP9) ENSP00000506581.1:p.Val3101Met
ENST00000680181.1:c.9385G>A (AKAP9) ENSP00000505548.1:p.Val3129Met
ENST00000680365.1:c.2971G>A (AKAP9) ENSP00000506019.1:p.Val991Met
ENST00000680513.1:c.9337G>A (AKAP9) ENSP00000505284.1:p.Val3113Met
ENST00000680534.1:c.9517G>A (AKAP9) ENSP00000506674.1:p.Val3173Met
ENST00000680766.1:c.9454G>A (AKAP9) ENSP00000505204.1:p.Val3152Met
ENST00000680952.1:c.9454G>A (AKAP9) ENSP00000506407.1:p.Val3152Met
ENST00000681216.1:c.3238G>A (AKAP9) ENSP00000505551.1:n.3238G>A
ENST00000681412.1:c.9478G>A (AKAP9) ENSP00000506486.1:p.Val3160Met
ENST00000681722.1:c.9454G>A (AKAP9) ENSP00000506566.1:p.Val3152Met
ENST00000691309.1:c.1352-7614C>T (CYP51A1) ENSP00000510368.1:n.1352-7614C>T
XM_006715827.1:c.9337G>A (AKAP9) XP_006715890.1:p.Val3113Met
XM_011515709.1:c.9625G>A (AKAP9) XP_011514011.1:p.Val3209Met
XM_011515710.1:c.9649G>A (AKAP9) XP_011514012.1:p.Val3217Met
XM_011515711.1:c.9589G>A (AKAP9) XP_011514013.1:p.Val3197Met
XM_011515712.1:c.9586G>A (AKAP9) XP_011514014.1:p.Val3196Met
XM_011515713.1:c.9571G>A (AKAP9) XP_011514015.1:p.Val3191Met
XM_011515714.1:c.9610G>A (AKAP9) XP_011514016.1:p.Val3204Met
XM_011515716.1:c.9529G>A (AKAP9) XP_011514018.1:p.Val3177Met
XM_011515717.1:c.9484G>A (AKAP9) XP_011514019.1:p.Val3162Met
XM_011515718.1:c.9514G>A (AKAP9) XP_011514020.1:p.Val3172Met
XM_011515719.1:c.9490G>A (AKAP9) XP_011514021.1:p.Val3164Met
XM_011515721.1:c.4138G>A (AKAP9) XP_011514023.1:p.Val1380Met
XM_011515722.1:c.4099G>A (AKAP9) XP_011514024.1:p.Val1367Met
XM_017011642.2:c.9613G>A (AKAP9) XP_016867131.1:p.Val3205Met
XM_017011643.2:c.9574G>A (AKAP9) XP_016867132.1:p.Val3192Met
XM_017011644.2:c.9613G>A (AKAP9) XP_016867133.1:p.Val3205Met
XM_017011645.2:c.9559G>A (AKAP9) XP_016867134.1:p.Val3187Met
XM_017011646.2:c.9574G>A (AKAP9) XP_016867135.1:p.Val3192Met
XM_017011647.2:c.9520G>A (AKAP9) XP_016867136.1:p.Val3174Met
XM_017011648.2:c.9517G>A (AKAP9) XP_016867137.1:p.Val3173Met
XM_017011649.2:c.9550G>A (AKAP9) XP_016867138.1:p.Val3184Met
XM_017011650.2:c.9478G>A (AKAP9) XP_016867139.1:p.Val3160Met
XM_017011651.2:c.9472G>A (AKAP9) XP_016867140.1:p.Val3158Met
XM_017011652.2:c.9424G>A (AKAP9) XP_016867141.1:p.Val3142Met
XM_017011653.2:c.9385G>A (AKAP9) XP_016867142.1:p.Val3129Met
XM_017011654.2:c.9337G>A (AKAP9) XP_016867143.1:p.Val3113Met
XM_017011655.2:c.9241G>A (AKAP9) XP_016867144.1:p.Val3081Met
XM_017011656.2:c.9241G>A (AKAP9) XP_016867145.1:p.Val3081Met
XM_017011657.2:c.5278G>A (AKAP9) XP_016867146.1:p.Val1760Met
XM_017011658.2:c.4162G>A (AKAP9) XP_016867147.1:p.Val1388Met
XM_017011659.2:c.4123G>A (AKAP9) XP_016867148.1:p.Val1375Met
XM_017011660.2:c.4123G>A (AKAP9) XP_016867149.1:p.Val1375Met
XM_024446631.1:c.9376G>A (AKAP9) XP_024302399.1:p.Val3126Met