Canonical Allele Identifier: CA368158429
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92099723T>G , CM000669.2:g.92099723T>G GRCh38
NC_000007.13:g.91729037T>G , CM000669.1:g.91729037T>G GRCh37
NC_000007.12:g.91566973T>G NCBI36
NG_011623.1:g.163849T>G , LRG_331:g.163849T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691309.1:c.1352-14121A>C (CYP51A1) ENSP00000510368.1:n.1352-14121A>C
ENST00000356239.8:c.10750T>G (AKAP9) MANE Select ENSP00000348573.3:p.Leu3584Val
ENST00000359028.7:c.10822T>G (AKAP9) ENSP00000351922.4:p.Leu3608Val
ENST00000394534.7:c.3742T>G (AKAP9) ENSP00000378042.3:p.Leu1248Val
ENST00000463118.2:n.98T>G (AKAP9)
ENST00000486313.2:c.238T>G (AKAP9) ENSP00000505389.1:p.Leu80Val
ENST00000487692.2:n.2828T>G (AKAP9)
ENST00000491695.2:c.5395T>G (AKAP9) ENSP00000494626.2:p.Leu1799Val
ENST00000679448.1:c.*1630T>G (AKAP9) ENSP00000505889.1:n.*1630T>G
ENST00000679457.1:c.10726T>G (AKAP9) ENSP00000505450.1:p.Leu3576Val
ENST00000679474.1:n.10948T>G (AKAP9)
ENST00000679521.1:c.10696T>G (AKAP9) ENSP00000505456.1:p.Leu3566Val
ENST00000679821.1:c.10492T>G (AKAP9) ENSP00000506040.1:p.Leu3498Val
ENST00000680047.1:n.12420T>G (AKAP9)
ENST00000680072.1:c.10573T>G (AKAP9) ENSP00000506581.1:p.Leu3525Val
ENST00000680181.1:c.10657T>G (AKAP9) ENSP00000505548.1:p.Leu3553Val
ENST00000680365.1:c.4389T>G (AKAP9) ENSP00000506019.1:n.4389T>G
ENST00000680513.1:c.10609T>G (AKAP9) ENSP00000505284.1:p.Leu3537Val
ENST00000680534.1:c.10789T>G (AKAP9) ENSP00000506674.1:p.Leu3597Val
ENST00000680766.1:c.10726T>G (AKAP9) ENSP00000505204.1:p.Leu3576Val
ENST00000680952.1:c.10726T>G (AKAP9) ENSP00000506407.1:p.Leu3576Val
ENST00000681216.1:c.4510T>G (AKAP9) ENSP00000505551.1:n.4510T>G
ENST00000681412.1:c.10750T>G (AKAP9) ENSP00000506486.1:p.Leu3584Val
ENST00000681722.1:c.10726T>G (AKAP9) ENSP00000506566.1:p.Leu3576Val
ENST00000356239.7:c.10750T>G (AKAP9) ENSP00000348573.3:p.Leu3584Val
ENST00000359028.6:c.10759T>G (AKAP9) ENSP00000351922.3:p.Leu3587Val
ENST00000394534.6:c.4288T>G (AKAP9) ENSP00000378042.2:p.Leu1430Val
ENST00000463118.1:n.98T>G (AKAP9)
ENST00000487258.5:n.2500T>G (AKAP9)
ENST00000487692.1:n.550T>G (AKAP9)
NM_005751.4:c.10750T>G , LRG_331t1:c.10750T>G (AKAP9) NP_005742.4:p.Leu3584Val
NM_147185.2:c.10726T>G (AKAP9) NP_671714.1:p.Leu3576Val
XM_006715827.1:c.10609T>G (AKAP9) XP_006715890.1:p.Leu3537Val
XM_011515709.1:c.10897T>G (AKAP9) XP_011514011.1:p.Leu3633Val
XM_011515710.1:c.10921T>G (AKAP9) XP_011514012.1:p.Leu3641Val
XM_011515711.1:c.10861T>G (AKAP9) XP_011514013.1:p.Leu3621Val
XM_011515712.1:c.10858T>G (AKAP9) XP_011514014.1:p.Leu3620Val
XM_011515713.1:c.10843T>G (AKAP9) XP_011514015.1:p.Leu3615Val
XM_011515714.1:c.10882T>G (AKAP9) XP_011514016.1:p.Leu3628Val
XM_011515716.1:c.10801T>G (AKAP9) XP_011514018.1:p.Leu3601Val
XM_011515717.1:c.10756T>G (AKAP9) XP_011514019.1:p.Leu3586Val
XM_011515718.1:c.10786T>G (AKAP9) XP_011514020.1:p.Leu3596Val
XM_011515719.1:c.10762T>G (AKAP9) XP_011514021.1:p.Leu3588Val
XM_011515721.1:c.5410T>G (AKAP9) XP_011514023.1:p.Leu1804Val
XM_011515722.1:c.5371T>G (AKAP9) XP_011514024.1:p.Leu1791Val
XM_017011642.2:c.10885T>G (AKAP9) XP_016867131.1:p.Leu3629Val
XM_017011643.2:c.10846T>G (AKAP9) XP_016867132.1:p.Leu3616Val
XM_017011644.2:c.10885T>G (AKAP9) XP_016867133.1:p.Leu3629Val
XM_017011645.2:c.10831T>G (AKAP9) XP_016867134.1:p.Leu3611Val
XM_017011646.2:c.10846T>G (AKAP9) XP_016867135.1:p.Leu3616Val
XM_017011647.2:c.10792T>G (AKAP9) XP_016867136.1:p.Leu3598Val
XM_017011648.2:c.10789T>G (AKAP9) XP_016867137.1:p.Leu3597Val
XM_017011649.2:c.10822T>G (AKAP9) XP_016867138.1:p.Leu3608Val
XM_017011650.2:c.10750T>G (AKAP9) XP_016867139.1:p.Leu3584Val
XM_017011651.2:c.10744T>G (AKAP9) XP_016867140.1:p.Leu3582Val
XM_017011652.2:c.10696T>G (AKAP9) XP_016867141.1:p.Leu3566Val
XM_017011653.2:c.10657T>G (AKAP9) XP_016867142.1:p.Leu3553Val
XM_017011654.2:c.10609T>G (AKAP9) XP_016867143.1:p.Leu3537Val
XM_017011655.2:c.10513T>G (AKAP9) XP_016867144.1:p.Leu3505Val
XM_017011656.2:c.10513T>G (AKAP9) XP_016867145.1:p.Leu3505Val
XM_017011657.2:c.6550T>G (AKAP9) XP_016867146.1:p.Leu2184Val
XM_017011658.2:c.5434T>G (AKAP9) XP_016867147.1:p.Leu1812Val
XM_017011659.2:c.5395T>G (AKAP9) XP_016867148.1:p.Leu1799Val
XM_017011660.2:c.5395T>G (AKAP9) XP_016867149.1:p.Leu1799Val
XM_024446631.1:c.10648T>G (AKAP9) XP_024302399.1:p.Leu3550Val
NM_147185.3:c.10726T>G (AKAP9) NP_671714.1:p.Leu3576Val
NM_001379277.1:c.5395T>G (AKAP9) NP_001366206.1:p.Leu1799Val
NM_005751.5:c.10750T>G (AKAP9) MANE Select NP_005742.4:p.Leu3584Val