Canonical Allele Identifier: CA4338128
Community Standard Title: NM_005751.5(AKAP9):c.11259G>C (p.Glu3753Asp)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92102755G>C , CM000669.2:g.92102755G>C GRCh38
NC_000007.13:g.91732069G>C , CM000669.1:g.91732069G>C GRCh37
NC_000007.12:g.91570005G>C NCBI36
NG_011623.1:g.166881G>C , LRG_331:g.166881G>C

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.11259G>C (AKAP9) MANE Select NP_005742.4:p.Glu3753Asp
ENST00000356239.8:c.11259G>C (AKAP9) MANE Select ENSP00000348573.3:p.Glu3753Asp
NM_001379277.1:c.5904G>C (AKAP9) NP_001366206.1:p.Glu1968Asp
NM_005751.4:c.11259G>C , LRG_331t1:c.11259G>C (AKAP9) NP_005742.4:p.Glu3753Asp
NM_147185.2:c.11235G>C (AKAP9) NP_671714.1:p.Glu3745Asp
NM_147185.3:c.11235G>C (AKAP9) NP_671714.1:p.Glu3745Asp
ENST00000356239.7:c.11259G>C (AKAP9) ENSP00000348573.3:p.Glu3753Asp
ENST00000359028.6:c.11268G>C (AKAP9) ENSP00000351922.3:p.Glu3756Asp
ENST00000359028.7:c.11331G>C (AKAP9) ENSP00000351922.4:p.Glu3777Asp
ENST00000394534.6:c.4797G>C (AKAP9) ENSP00000378042.2:p.Glu1599Asp
ENST00000394534.7:c.4251G>C (AKAP9) ENSP00000378042.3:p.Glu1417Asp
ENST00000463118.1:n.514G>C (AKAP9)
ENST00000463118.2:n.514G>C (AKAP9)
ENST00000486313.1:n.167G>C (AKAP9)
ENST00000486313.2:c.747G>C (AKAP9) ENSP00000505389.1:p.Glu249Asp
ENST00000487258.5:n.3009G>C (AKAP9)
ENST00000487692.2:n.3175+1699G>C (AKAP9)
ENST00000491695.2:c.5904G>C (AKAP9) ENSP00000494626.2:p.Glu1968Asp
ENST00000679448.1:c.*2139G>C (AKAP9) ENSP00000505889.1:n.*2139G>C
ENST00000679457.1:c.11235G>C (AKAP9) ENSP00000505450.1:p.Glu3745Asp
ENST00000679474.1:n.12443G>C (AKAP9)
ENST00000679521.1:c.11205G>C (AKAP9) ENSP00000505456.1:p.Glu3735Asp
ENST00000679821.1:c.11001G>C (AKAP9) ENSP00000506040.1:p.Glu3667Asp
ENST00000680047.1:n.12929G>C (AKAP9)
ENST00000680072.1:c.11082G>C (AKAP9) ENSP00000506581.1:p.Glu3694Asp
ENST00000680181.1:c.11166G>C (AKAP9) ENSP00000505548.1:p.Glu3722Asp
ENST00000680365.1:c.4898G>C (AKAP9) ENSP00000506019.1:n.4898G>C
ENST00000680513.1:c.11118G>C (AKAP9) ENSP00000505284.1:p.Glu3706Asp
ENST00000680534.1:c.11298G>C (AKAP9) ENSP00000506674.1:p.Glu3766Asp
ENST00000680766.1:c.11235G>C (AKAP9) ENSP00000505204.1:p.Glu3745Asp
ENST00000680952.1:c.11235G>C (AKAP9) ENSP00000506407.1:p.Glu3745Asp
ENST00000681216.1:c.5019G>C (AKAP9) ENSP00000505551.1:n.5019G>C
ENST00000681412.1:c.11259G>C (AKAP9) ENSP00000506486.1:p.Glu3753Asp
ENST00000681722.1:c.11235G>C (AKAP9) ENSP00000506566.1:p.Glu3745Asp
ENST00000691309.1:c.1351+14289C>G (CYP51A1) ENSP00000510368.1:n.1351+14289C>G
XM_006715827.1:c.11118G>C (AKAP9) XP_006715890.1:p.Glu3706Asp
XM_011515709.1:c.11406G>C (AKAP9) XP_011514011.1:p.Glu3802Asp
XM_011515710.1:c.11430G>C (AKAP9) XP_011514012.1:p.Glu3810Asp
XM_011515711.1:c.11370G>C (AKAP9) XP_011514013.1:p.Glu3790Asp
XM_011515712.1:c.11367G>C (AKAP9) XP_011514014.1:p.Glu3789Asp
XM_011515713.1:c.11352G>C (AKAP9) XP_011514015.1:p.Glu3784Asp
XM_011515714.1:c.11391G>C (AKAP9) XP_011514016.1:p.Glu3797Asp
XM_011515716.1:c.11310G>C (AKAP9) XP_011514018.1:p.Glu3770Asp
XM_011515717.1:c.11265G>C (AKAP9) XP_011514019.1:p.Glu3755Asp
XM_011515718.1:c.11295G>C (AKAP9) XP_011514020.1:p.Glu3765Asp
XM_011515719.1:c.11271G>C (AKAP9) XP_011514021.1:p.Glu3757Asp
XM_011515721.1:c.5919G>C (AKAP9) XP_011514023.1:p.Glu1973Asp
XM_011515722.1:c.5880G>C (AKAP9) XP_011514024.1:p.Glu1960Asp
XM_017011642.2:c.11394G>C (AKAP9) XP_016867131.1:p.Glu3798Asp
XM_017011643.2:c.11355G>C (AKAP9) XP_016867132.1:p.Glu3785Asp
XM_017011644.2:c.11394G>C (AKAP9) XP_016867133.1:p.Glu3798Asp
XM_017011645.2:c.11340G>C (AKAP9) XP_016867134.1:p.Glu3780Asp
XM_017011646.2:c.11355G>C (AKAP9) XP_016867135.1:p.Glu3785Asp
XM_017011647.2:c.11301G>C (AKAP9) XP_016867136.1:p.Glu3767Asp
XM_017011648.2:c.11298G>C (AKAP9) XP_016867137.1:p.Glu3766Asp
XM_017011649.2:c.11331G>C (AKAP9) XP_016867138.1:p.Glu3777Asp
XM_017011650.2:c.11259G>C (AKAP9) XP_016867139.1:p.Glu3753Asp
XM_017011651.2:c.11253G>C (AKAP9) XP_016867140.1:p.Glu3751Asp
XM_017011652.2:c.11205G>C (AKAP9) XP_016867141.1:p.Glu3735Asp
XM_017011653.2:c.11166G>C (AKAP9) XP_016867142.1:p.Glu3722Asp
XM_017011654.2:c.11118G>C (AKAP9) XP_016867143.1:p.Glu3706Asp
XM_017011655.2:c.11022G>C (AKAP9) XP_016867144.1:p.Glu3674Asp
XM_017011656.2:c.11022G>C (AKAP9) XP_016867145.1:p.Glu3674Asp
XM_017011657.2:c.7059G>C (AKAP9) XP_016867146.1:p.Glu2353Asp
XM_017011658.2:c.5943G>C (AKAP9) XP_016867147.1:p.Glu1981Asp
XM_017011659.2:c.5904G>C (AKAP9) XP_016867148.1:p.Glu1968Asp
XM_017011660.2:c.5904G>C (AKAP9) XP_016867149.1:p.Glu1968Asp
XM_024446631.1:c.11157G>C (AKAP9) XP_024302399.1:p.Glu3719Asp