Canonical Allele Identifier: CA4338119
Community Standard Title: NM_005751.5(AKAP9):c.11231G>C (p.Gly3744Ala)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92102727G>C , CM000669.2:g.92102727G>C GRCh38
NC_000007.13:g.91732041G>C , CM000669.1:g.91732041G>C GRCh37
NC_000007.12:g.91569977G>C NCBI36
NG_011623.1:g.166853G>C , LRG_331:g.166853G>C

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.11231G>C (AKAP9) MANE Select NP_005742.4:p.Gly3744Ala
ENST00000356239.8:c.11231G>C (AKAP9) MANE Select ENSP00000348573.3:p.Gly3744Ala
NM_001379277.1:c.5876G>C (AKAP9) NP_001366206.1:p.Gly1959Ala
NM_005751.4:c.11231G>C , LRG_331t1:c.11231G>C (AKAP9) NP_005742.4:p.Gly3744Ala
NM_147185.2:c.11207G>C (AKAP9) NP_671714.1:p.Gly3736Ala
NM_147185.3:c.11207G>C (AKAP9) NP_671714.1:p.Gly3736Ala
ENST00000356239.7:c.11231G>C (AKAP9) ENSP00000348573.3:p.Gly3744Ala
ENST00000359028.6:c.11240G>C (AKAP9) ENSP00000351922.3:p.Gly3747Ala
ENST00000359028.7:c.11303G>C (AKAP9) ENSP00000351922.4:p.Gly3768Ala
ENST00000394534.6:c.4769G>C (AKAP9) ENSP00000378042.2:p.Gly1590Ala
ENST00000394534.7:c.4223G>C (AKAP9) ENSP00000378042.3:p.Gly1408Ala
ENST00000463118.1:n.486G>C (AKAP9)
ENST00000463118.2:n.486G>C (AKAP9)
ENST00000486313.1:n.139G>C (AKAP9)
ENST00000486313.2:c.719G>C (AKAP9) ENSP00000505389.1:p.Gly240Ala
ENST00000487258.5:n.2981G>C (AKAP9)
ENST00000487692.2:n.3175+1671G>C (AKAP9)
ENST00000491695.2:c.5876G>C (AKAP9) ENSP00000494626.2:p.Gly1959Ala
ENST00000679448.1:c.*2111G>C (AKAP9) ENSP00000505889.1:n.*2111G>C
ENST00000679457.1:c.11207G>C (AKAP9) ENSP00000505450.1:p.Gly3736Ala
ENST00000679474.1:n.12415G>C (AKAP9)
ENST00000679521.1:c.11177G>C (AKAP9) ENSP00000505456.1:p.Gly3726Ala
ENST00000679821.1:c.10973G>C (AKAP9) ENSP00000506040.1:p.Gly3658Ala
ENST00000680047.1:n.12901G>C (AKAP9)
ENST00000680072.1:c.11054G>C (AKAP9) ENSP00000506581.1:p.Gly3685Ala
ENST00000680181.1:c.11138G>C (AKAP9) ENSP00000505548.1:p.Gly3713Ala
ENST00000680365.1:c.4870G>C (AKAP9) ENSP00000506019.1:n.4870G>C
ENST00000680513.1:c.11090G>C (AKAP9) ENSP00000505284.1:p.Gly3697Ala
ENST00000680534.1:c.11270G>C (AKAP9) ENSP00000506674.1:p.Gly3757Ala
ENST00000680766.1:c.11207G>C (AKAP9) ENSP00000505204.1:p.Gly3736Ala
ENST00000680952.1:c.11207G>C (AKAP9) ENSP00000506407.1:p.Gly3736Ala
ENST00000681216.1:c.4991G>C (AKAP9) ENSP00000505551.1:n.4991G>C
ENST00000681412.1:c.11231G>C (AKAP9) ENSP00000506486.1:p.Gly3744Ala
ENST00000681722.1:c.11207G>C (AKAP9) ENSP00000506566.1:p.Gly3736Ala
ENST00000691309.1:c.1351+14317C>G (CYP51A1) ENSP00000510368.1:n.1351+14317C>G
XM_006715827.1:c.11090G>C (AKAP9) XP_006715890.1:p.Gly3697Ala
XM_011515709.1:c.11378G>C (AKAP9) XP_011514011.1:p.Gly3793Ala
XM_011515710.1:c.11402G>C (AKAP9) XP_011514012.1:p.Gly3801Ala
XM_011515711.1:c.11342G>C (AKAP9) XP_011514013.1:p.Gly3781Ala
XM_011515712.1:c.11339G>C (AKAP9) XP_011514014.1:p.Gly3780Ala
XM_011515713.1:c.11324G>C (AKAP9) XP_011514015.1:p.Gly3775Ala
XM_011515714.1:c.11363G>C (AKAP9) XP_011514016.1:p.Gly3788Ala
XM_011515716.1:c.11282G>C (AKAP9) XP_011514018.1:p.Gly3761Ala
XM_011515717.1:c.11237G>C (AKAP9) XP_011514019.1:p.Gly3746Ala
XM_011515718.1:c.11267G>C (AKAP9) XP_011514020.1:p.Gly3756Ala
XM_011515719.1:c.11243G>C (AKAP9) XP_011514021.1:p.Gly3748Ala
XM_011515721.1:c.5891G>C (AKAP9) XP_011514023.1:p.Gly1964Ala
XM_011515722.1:c.5852G>C (AKAP9) XP_011514024.1:p.Gly1951Ala
XM_017011642.2:c.11366G>C (AKAP9) XP_016867131.1:p.Gly3789Ala
XM_017011643.2:c.11327G>C (AKAP9) XP_016867132.1:p.Gly3776Ala
XM_017011644.2:c.11366G>C (AKAP9) XP_016867133.1:p.Gly3789Ala
XM_017011645.2:c.11312G>C (AKAP9) XP_016867134.1:p.Gly3771Ala
XM_017011646.2:c.11327G>C (AKAP9) XP_016867135.1:p.Gly3776Ala
XM_017011647.2:c.11273G>C (AKAP9) XP_016867136.1:p.Gly3758Ala
XM_017011648.2:c.11270G>C (AKAP9) XP_016867137.1:p.Gly3757Ala
XM_017011649.2:c.11303G>C (AKAP9) XP_016867138.1:p.Gly3768Ala
XM_017011650.2:c.11231G>C (AKAP9) XP_016867139.1:p.Gly3744Ala
XM_017011651.2:c.11225G>C (AKAP9) XP_016867140.1:p.Gly3742Ala
XM_017011652.2:c.11177G>C (AKAP9) XP_016867141.1:p.Gly3726Ala
XM_017011653.2:c.11138G>C (AKAP9) XP_016867142.1:p.Gly3713Ala
XM_017011654.2:c.11090G>C (AKAP9) XP_016867143.1:p.Gly3697Ala
XM_017011655.2:c.10994G>C (AKAP9) XP_016867144.1:p.Gly3665Ala
XM_017011656.2:c.10994G>C (AKAP9) XP_016867145.1:p.Gly3665Ala
XM_017011657.2:c.7031G>C (AKAP9) XP_016867146.1:p.Gly2344Ala
XM_017011658.2:c.5915G>C (AKAP9) XP_016867147.1:p.Gly1972Ala
XM_017011659.2:c.5876G>C (AKAP9) XP_016867148.1:p.Gly1959Ala
XM_017011660.2:c.5876G>C (AKAP9) XP_016867149.1:p.Gly1959Ala
XM_024446631.1:c.11129G>C (AKAP9) XP_024302399.1:p.Gly3710Ala