Canonical Allele Identifier: CA368158464
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92099727C>G , CM000669.2:g.92099727C>G GRCh38
NC_000007.13:g.91729041C>G , CM000669.1:g.91729041C>G GRCh37
NC_000007.12:g.91566977C>G NCBI36
NG_011623.1:g.163853C>G , LRG_331:g.163853C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691309.1:c.1352-14125G>C (CYP51A1) ENSP00000510368.1:n.1352-14125G>C
ENST00000356239.8:c.10754C>G (AKAP9) MANE Select ENSP00000348573.3:p.Thr3585Ser
ENST00000359028.7:c.10826C>G (AKAP9) ENSP00000351922.4:p.Thr3609Ser
ENST00000394534.7:c.3746C>G (AKAP9) ENSP00000378042.3:p.Thr1249Ser
ENST00000463118.2:n.102C>G (AKAP9)
ENST00000486313.2:c.242C>G (AKAP9) ENSP00000505389.1:p.Thr81Ser
ENST00000487692.2:n.2832C>G (AKAP9)
ENST00000491695.2:c.5399C>G (AKAP9) ENSP00000494626.2:p.Thr1800Ser
ENST00000679448.1:c.*1634C>G (AKAP9) ENSP00000505889.1:n.*1634C>G
ENST00000679457.1:c.10730C>G (AKAP9) ENSP00000505450.1:p.Thr3577Ser
ENST00000679474.1:n.10952C>G (AKAP9)
ENST00000679521.1:c.10700C>G (AKAP9) ENSP00000505456.1:p.Thr3567Ser
ENST00000679821.1:c.10496C>G (AKAP9) ENSP00000506040.1:p.Thr3499Ser
ENST00000680047.1:n.12424C>G (AKAP9)
ENST00000680072.1:c.10577C>G (AKAP9) ENSP00000506581.1:p.Thr3526Ser
ENST00000680181.1:c.10661C>G (AKAP9) ENSP00000505548.1:p.Thr3554Ser
ENST00000680365.1:c.4393C>G (AKAP9) ENSP00000506019.1:n.4393C>G
ENST00000680513.1:c.10613C>G (AKAP9) ENSP00000505284.1:p.Thr3538Ser
ENST00000680534.1:c.10793C>G (AKAP9) ENSP00000506674.1:p.Thr3598Ser
ENST00000680766.1:c.10730C>G (AKAP9) ENSP00000505204.1:p.Thr3577Ser
ENST00000680952.1:c.10730C>G (AKAP9) ENSP00000506407.1:p.Thr3577Ser
ENST00000681216.1:c.4514C>G (AKAP9) ENSP00000505551.1:n.4514C>G
ENST00000681412.1:c.10754C>G (AKAP9) ENSP00000506486.1:p.Thr3585Ser
ENST00000681722.1:c.10730C>G (AKAP9) ENSP00000506566.1:p.Thr3577Ser
ENST00000356239.7:c.10754C>G (AKAP9) ENSP00000348573.3:p.Thr3585Ser
ENST00000359028.6:c.10763C>G (AKAP9) ENSP00000351922.3:p.Thr3588Ser
ENST00000394534.6:c.4292C>G (AKAP9) ENSP00000378042.2:p.Thr1431Ser
ENST00000463118.1:n.102C>G (AKAP9)
ENST00000487258.5:n.2504C>G (AKAP9)
ENST00000487692.1:n.554C>G (AKAP9)
NM_005751.4:c.10754C>G , LRG_331t1:c.10754C>G (AKAP9) NP_005742.4:p.Thr3585Ser
NM_147185.2:c.10730C>G (AKAP9) NP_671714.1:p.Thr3577Ser
XM_006715827.1:c.10613C>G (AKAP9) XP_006715890.1:p.Thr3538Ser
XM_011515709.1:c.10901C>G (AKAP9) XP_011514011.1:p.Thr3634Ser
XM_011515710.1:c.10925C>G (AKAP9) XP_011514012.1:p.Thr3642Ser
XM_011515711.1:c.10865C>G (AKAP9) XP_011514013.1:p.Thr3622Ser
XM_011515712.1:c.10862C>G (AKAP9) XP_011514014.1:p.Thr3621Ser
XM_011515713.1:c.10847C>G (AKAP9) XP_011514015.1:p.Thr3616Ser
XM_011515714.1:c.10886C>G (AKAP9) XP_011514016.1:p.Thr3629Ser
XM_011515716.1:c.10805C>G (AKAP9) XP_011514018.1:p.Thr3602Ser
XM_011515717.1:c.10760C>G (AKAP9) XP_011514019.1:p.Thr3587Ser
XM_011515718.1:c.10790C>G (AKAP9) XP_011514020.1:p.Thr3597Ser
XM_011515719.1:c.10766C>G (AKAP9) XP_011514021.1:p.Thr3589Ser
XM_011515721.1:c.5414C>G (AKAP9) XP_011514023.1:p.Thr1805Ser
XM_011515722.1:c.5375C>G (AKAP9) XP_011514024.1:p.Thr1792Ser
XM_017011642.2:c.10889C>G (AKAP9) XP_016867131.1:p.Thr3630Ser
XM_017011643.2:c.10850C>G (AKAP9) XP_016867132.1:p.Thr3617Ser
XM_017011644.2:c.10889C>G (AKAP9) XP_016867133.1:p.Thr3630Ser
XM_017011645.2:c.10835C>G (AKAP9) XP_016867134.1:p.Thr3612Ser
XM_017011646.2:c.10850C>G (AKAP9) XP_016867135.1:p.Thr3617Ser
XM_017011647.2:c.10796C>G (AKAP9) XP_016867136.1:p.Thr3599Ser
XM_017011648.2:c.10793C>G (AKAP9) XP_016867137.1:p.Thr3598Ser
XM_017011649.2:c.10826C>G (AKAP9) XP_016867138.1:p.Thr3609Ser
XM_017011650.2:c.10754C>G (AKAP9) XP_016867139.1:p.Thr3585Ser
XM_017011651.2:c.10748C>G (AKAP9) XP_016867140.1:p.Thr3583Ser
XM_017011652.2:c.10700C>G (AKAP9) XP_016867141.1:p.Thr3567Ser
XM_017011653.2:c.10661C>G (AKAP9) XP_016867142.1:p.Thr3554Ser
XM_017011654.2:c.10613C>G (AKAP9) XP_016867143.1:p.Thr3538Ser
XM_017011655.2:c.10517C>G (AKAP9) XP_016867144.1:p.Thr3506Ser
XM_017011656.2:c.10517C>G (AKAP9) XP_016867145.1:p.Thr3506Ser
XM_017011657.2:c.6554C>G (AKAP9) XP_016867146.1:p.Thr2185Ser
XM_017011658.2:c.5438C>G (AKAP9) XP_016867147.1:p.Thr1813Ser
XM_017011659.2:c.5399C>G (AKAP9) XP_016867148.1:p.Thr1800Ser
XM_017011660.2:c.5399C>G (AKAP9) XP_016867149.1:p.Thr1800Ser
XM_024446631.1:c.10652C>G (AKAP9) XP_024302399.1:p.Thr3551Ser
NM_147185.3:c.10730C>G (AKAP9) NP_671714.1:p.Thr3577Ser
NM_001379277.1:c.5399C>G (AKAP9) NP_001366206.1:p.Thr1800Ser
NM_005751.5:c.10754C>G (AKAP9) MANE Select NP_005742.4:p.Thr3585Ser