Canonical Allele Identifier: CA4338104
Community Standard Title: NM_005751.5(AKAP9):c.11189A>C (p.Gln3730Pro)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92102685A>C , CM000669.2:g.92102685A>C GRCh38
NC_000007.13:g.91731999A>C , CM000669.1:g.91731999A>C GRCh37
NC_000007.12:g.91569935A>C NCBI36
NG_011623.1:g.166811A>C , LRG_331:g.166811A>C

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.11189A>C (AKAP9) MANE Select NP_005742.4:p.Gln3730Pro
ENST00000356239.8:c.11189A>C (AKAP9) MANE Select ENSP00000348573.3:p.Gln3730Pro
NM_001379277.1:c.5834A>C (AKAP9) NP_001366206.1:p.Gln1945Pro
NM_005751.4:c.11189A>C , LRG_331t1:c.11189A>C (AKAP9) NP_005742.4:p.Gln3730Pro
NM_147185.2:c.11165A>C (AKAP9) NP_671714.1:p.Gln3722Pro
NM_147185.3:c.11165A>C (AKAP9) NP_671714.1:p.Gln3722Pro
ENST00000356239.7:c.11189A>C (AKAP9) ENSP00000348573.3:p.Gln3730Pro
ENST00000359028.6:c.11198A>C (AKAP9) ENSP00000351922.3:p.Gln3733Pro
ENST00000359028.7:c.11261A>C (AKAP9) ENSP00000351922.4:p.Gln3754Pro
ENST00000394534.6:c.4727A>C (AKAP9) ENSP00000378042.2:p.Gln1576Pro
ENST00000394534.7:c.4181A>C (AKAP9) ENSP00000378042.3:p.Gln1394Pro
ENST00000463118.1:n.446-2A>C (AKAP9)
ENST00000463118.2:n.446-2A>C (AKAP9)
ENST00000486313.1:n.97A>C (AKAP9)
ENST00000486313.2:c.677A>C (AKAP9) ENSP00000505389.1:p.Gln226Pro
ENST00000487258.5:n.2939A>C (AKAP9)
ENST00000487692.2:n.3175+1629A>C (AKAP9)
ENST00000491695.2:c.5834A>C (AKAP9) ENSP00000494626.2:p.Gln1945Pro
ENST00000679448.1:c.*2069A>C (AKAP9) ENSP00000505889.1:n.*2069A>C
ENST00000679457.1:c.11165A>C (AKAP9) ENSP00000505450.1:p.Gln3722Pro
ENST00000679474.1:n.12373A>C (AKAP9)
ENST00000679521.1:c.11135A>C (AKAP9) ENSP00000505456.1:p.Gln3712Pro
ENST00000679821.1:c.10931A>C (AKAP9) ENSP00000506040.1:p.Gln3644Pro
ENST00000680047.1:n.12859A>C (AKAP9)
ENST00000680072.1:c.11012A>C (AKAP9) ENSP00000506581.1:p.Gln3671Pro
ENST00000680181.1:c.11096A>C (AKAP9) ENSP00000505548.1:p.Gln3699Pro
ENST00000680365.1:c.4828A>C (AKAP9) ENSP00000506019.1:n.4828A>C
ENST00000680513.1:c.11048A>C (AKAP9) ENSP00000505284.1:p.Gln3683Pro
ENST00000680534.1:c.11228A>C (AKAP9) ENSP00000506674.1:p.Gln3743Pro
ENST00000680766.1:c.11165A>C (AKAP9) ENSP00000505204.1:p.Gln3722Pro
ENST00000680952.1:c.11165A>C (AKAP9) ENSP00000506407.1:p.Gln3722Pro
ENST00000681216.1:c.4949A>C (AKAP9) ENSP00000505551.1:n.4949A>C
ENST00000681412.1:c.11189A>C (AKAP9) ENSP00000506486.1:p.Gln3730Pro
ENST00000681722.1:c.11165A>C (AKAP9) ENSP00000506566.1:p.Gln3722Pro
ENST00000691309.1:c.1351+14359T>G (CYP51A1) ENSP00000510368.1:n.1351+14359T>G
XM_006715827.1:c.11048A>C (AKAP9) XP_006715890.1:p.Gln3683Pro
XM_011515709.1:c.11336A>C (AKAP9) XP_011514011.1:p.Gln3779Pro
XM_011515710.1:c.11360A>C (AKAP9) XP_011514012.1:p.Gln3787Pro
XM_011515711.1:c.11300A>C (AKAP9) XP_011514013.1:p.Gln3767Pro
XM_011515712.1:c.11297A>C (AKAP9) XP_011514014.1:p.Gln3766Pro
XM_011515713.1:c.11282A>C (AKAP9) XP_011514015.1:p.Gln3761Pro
XM_011515714.1:c.11321A>C (AKAP9) XP_011514016.1:p.Gln3774Pro
XM_011515716.1:c.11240A>C (AKAP9) XP_011514018.1:p.Gln3747Pro
XM_011515717.1:c.11195A>C (AKAP9) XP_011514019.1:p.Gln3732Pro
XM_011515718.1:c.11225A>C (AKAP9) XP_011514020.1:p.Gln3742Pro
XM_011515719.1:c.11201A>C (AKAP9) XP_011514021.1:p.Gln3734Pro
XM_011515721.1:c.5849A>C (AKAP9) XP_011514023.1:p.Gln1950Pro
XM_011515722.1:c.5810A>C (AKAP9) XP_011514024.1:p.Gln1937Pro
XM_017011642.2:c.11324A>C (AKAP9) XP_016867131.1:p.Gln3775Pro
XM_017011643.2:c.11285A>C (AKAP9) XP_016867132.1:p.Gln3762Pro
XM_017011644.2:c.11324A>C (AKAP9) XP_016867133.1:p.Gln3775Pro
XM_017011645.2:c.11270A>C (AKAP9) XP_016867134.1:p.Gln3757Pro
XM_017011646.2:c.11285A>C (AKAP9) XP_016867135.1:p.Gln3762Pro
XM_017011647.2:c.11231A>C (AKAP9) XP_016867136.1:p.Gln3744Pro
XM_017011648.2:c.11228A>C (AKAP9) XP_016867137.1:p.Gln3743Pro
XM_017011649.2:c.11261A>C (AKAP9) XP_016867138.1:p.Gln3754Pro
XM_017011650.2:c.11189A>C (AKAP9) XP_016867139.1:p.Gln3730Pro
XM_017011651.2:c.11183A>C (AKAP9) XP_016867140.1:p.Gln3728Pro
XM_017011652.2:c.11135A>C (AKAP9) XP_016867141.1:p.Gln3712Pro
XM_017011653.2:c.11096A>C (AKAP9) XP_016867142.1:p.Gln3699Pro
XM_017011654.2:c.11048A>C (AKAP9) XP_016867143.1:p.Gln3683Pro
XM_017011655.2:c.10952A>C (AKAP9) XP_016867144.1:p.Gln3651Pro
XM_017011656.2:c.10952A>C (AKAP9) XP_016867145.1:p.Gln3651Pro
XM_017011657.2:c.6989A>C (AKAP9) XP_016867146.1:p.Gln2330Pro
XM_017011658.2:c.5873A>C (AKAP9) XP_016867147.1:p.Gln1958Pro
XM_017011659.2:c.5834A>C (AKAP9) XP_016867148.1:p.Gln1945Pro
XM_017011660.2:c.5834A>C (AKAP9) XP_016867149.1:p.Gln1945Pro
XM_024446631.1:c.11087A>C (AKAP9) XP_024302399.1:p.Gln3696Pro