Canonical Allele Identifier: CA368158895
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92099820T>G , CM000669.2:g.92099820T>G GRCh38
NC_000007.13:g.91729134T>G , CM000669.1:g.91729134T>G GRCh37
NC_000007.12:g.91567070T>G NCBI36
NG_011623.1:g.163946T>G , LRG_331:g.163946T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691309.1:c.1352-14218A>C (CYP51A1) ENSP00000510368.1:n.1352-14218A>C
ENST00000356239.8:c.10847T>G (AKAP9) MANE Select ENSP00000348573.3:p.Leu3616Arg
ENST00000359028.7:c.10919T>G (AKAP9) ENSP00000351922.4:p.Leu3640Arg
ENST00000394534.7:c.3839T>G (AKAP9) ENSP00000378042.3:p.Leu1280Arg
ENST00000463118.2:n.195T>G (AKAP9)
ENST00000486313.2:c.335T>G (AKAP9) ENSP00000505389.1:p.Leu112Arg
ENST00000487692.2:n.2925T>G (AKAP9)
ENST00000491695.2:c.5492T>G (AKAP9) ENSP00000494626.2:p.Leu1831Arg
ENST00000679448.1:c.*1727T>G (AKAP9) ENSP00000505889.1:n.*1727T>G
ENST00000679457.1:c.10823T>G (AKAP9) ENSP00000505450.1:p.Leu3608Arg
ENST00000679474.1:n.11045T>G (AKAP9)
ENST00000679521.1:c.10793T>G (AKAP9) ENSP00000505456.1:p.Leu3598Arg
ENST00000679821.1:c.10589T>G (AKAP9) ENSP00000506040.1:p.Leu3530Arg
ENST00000680047.1:n.12517T>G (AKAP9)
ENST00000680072.1:c.10670T>G (AKAP9) ENSP00000506581.1:p.Leu3557Arg
ENST00000680181.1:c.10754T>G (AKAP9) ENSP00000505548.1:p.Leu3585Arg
ENST00000680365.1:c.4486T>G (AKAP9) ENSP00000506019.1:n.4486T>G
ENST00000680513.1:c.10706T>G (AKAP9) ENSP00000505284.1:p.Leu3569Arg
ENST00000680534.1:c.10886T>G (AKAP9) ENSP00000506674.1:p.Leu3629Arg
ENST00000680766.1:c.10823T>G (AKAP9) ENSP00000505204.1:p.Leu3608Arg
ENST00000680952.1:c.10823T>G (AKAP9) ENSP00000506407.1:p.Leu3608Arg
ENST00000681216.1:c.4607T>G (AKAP9) ENSP00000505551.1:n.4607T>G
ENST00000681412.1:c.10847T>G (AKAP9) ENSP00000506486.1:p.Leu3616Arg
ENST00000681722.1:c.10823T>G (AKAP9) ENSP00000506566.1:p.Leu3608Arg
ENST00000356239.7:c.10847T>G (AKAP9) ENSP00000348573.3:p.Leu3616Arg
ENST00000359028.6:c.10856T>G (AKAP9) ENSP00000351922.3:p.Leu3619Arg
ENST00000394534.6:c.4385T>G (AKAP9) ENSP00000378042.2:p.Leu1462Arg
ENST00000463118.1:n.195T>G (AKAP9)
ENST00000487258.5:n.2597T>G (AKAP9)
ENST00000487692.1:n.647T>G (AKAP9)
NM_005751.4:c.10847T>G , LRG_331t1:c.10847T>G (AKAP9) NP_005742.4:p.Leu3616Arg
NM_147185.2:c.10823T>G (AKAP9) NP_671714.1:p.Leu3608Arg
XM_006715827.1:c.10706T>G (AKAP9) XP_006715890.1:p.Leu3569Arg
XM_011515709.1:c.10994T>G (AKAP9) XP_011514011.1:p.Leu3665Arg
XM_011515710.1:c.11018T>G (AKAP9) XP_011514012.1:p.Leu3673Arg
XM_011515711.1:c.10958T>G (AKAP9) XP_011514013.1:p.Leu3653Arg
XM_011515712.1:c.10955T>G (AKAP9) XP_011514014.1:p.Leu3652Arg
XM_011515713.1:c.10940T>G (AKAP9) XP_011514015.1:p.Leu3647Arg
XM_011515714.1:c.10979T>G (AKAP9) XP_011514016.1:p.Leu3660Arg
XM_011515716.1:c.10898T>G (AKAP9) XP_011514018.1:p.Leu3633Arg
XM_011515717.1:c.10853T>G (AKAP9) XP_011514019.1:p.Leu3618Arg
XM_011515718.1:c.10883T>G (AKAP9) XP_011514020.1:p.Leu3628Arg
XM_011515719.1:c.10859T>G (AKAP9) XP_011514021.1:p.Leu3620Arg
XM_011515721.1:c.5507T>G (AKAP9) XP_011514023.1:p.Leu1836Arg
XM_011515722.1:c.5468T>G (AKAP9) XP_011514024.1:p.Leu1823Arg
XM_017011642.2:c.10982T>G (AKAP9) XP_016867131.1:p.Leu3661Arg
XM_017011643.2:c.10943T>G (AKAP9) XP_016867132.1:p.Leu3648Arg
XM_017011644.2:c.10982T>G (AKAP9) XP_016867133.1:p.Leu3661Arg
XM_017011645.2:c.10928T>G (AKAP9) XP_016867134.1:p.Leu3643Arg
XM_017011646.2:c.10943T>G (AKAP9) XP_016867135.1:p.Leu3648Arg
XM_017011647.2:c.10889T>G (AKAP9) XP_016867136.1:p.Leu3630Arg
XM_017011648.2:c.10886T>G (AKAP9) XP_016867137.1:p.Leu3629Arg
XM_017011649.2:c.10919T>G (AKAP9) XP_016867138.1:p.Leu3640Arg
XM_017011650.2:c.10847T>G (AKAP9) XP_016867139.1:p.Leu3616Arg
XM_017011651.2:c.10841T>G (AKAP9) XP_016867140.1:p.Leu3614Arg
XM_017011652.2:c.10793T>G (AKAP9) XP_016867141.1:p.Leu3598Arg
XM_017011653.2:c.10754T>G (AKAP9) XP_016867142.1:p.Leu3585Arg
XM_017011654.2:c.10706T>G (AKAP9) XP_016867143.1:p.Leu3569Arg
XM_017011655.2:c.10610T>G (AKAP9) XP_016867144.1:p.Leu3537Arg
XM_017011656.2:c.10610T>G (AKAP9) XP_016867145.1:p.Leu3537Arg
XM_017011657.2:c.6647T>G (AKAP9) XP_016867146.1:p.Leu2216Arg
XM_017011658.2:c.5531T>G (AKAP9) XP_016867147.1:p.Leu1844Arg
XM_017011659.2:c.5492T>G (AKAP9) XP_016867148.1:p.Leu1831Arg
XM_017011660.2:c.5492T>G (AKAP9) XP_016867149.1:p.Leu1831Arg
XM_024446631.1:c.10745T>G (AKAP9) XP_024302399.1:p.Leu3582Arg
NM_147185.3:c.10823T>G (AKAP9) NP_671714.1:p.Leu3608Arg
NM_001379277.1:c.5492T>G (AKAP9) NP_001366206.1:p.Leu1831Arg
NM_005751.5:c.10847T>G (AKAP9) MANE Select NP_005742.4:p.Leu3616Arg