Canonical Allele Identifier: CA368158435
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92099724T>G , CM000669.2:g.92099724T>G GRCh38
NC_000007.13:g.91729038T>G , CM000669.1:g.91729038T>G GRCh37
NC_000007.12:g.91566974T>G NCBI36
NG_011623.1:g.163850T>G , LRG_331:g.163850T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691309.1:c.1352-14122A>C (CYP51A1) ENSP00000510368.1:n.1352-14122A>C
ENST00000356239.8:c.10751T>G (AKAP9) MANE Select ENSP00000348573.3:p.Leu3584Trp
ENST00000359028.7:c.10823T>G (AKAP9) ENSP00000351922.4:p.Leu3608Trp
ENST00000394534.7:c.3743T>G (AKAP9) ENSP00000378042.3:p.Leu1248Trp
ENST00000463118.2:n.99T>G (AKAP9)
ENST00000486313.2:c.239T>G (AKAP9) ENSP00000505389.1:p.Leu80Trp
ENST00000487692.2:n.2829T>G (AKAP9)
ENST00000491695.2:c.5396T>G (AKAP9) ENSP00000494626.2:p.Leu1799Trp
ENST00000679448.1:c.*1631T>G (AKAP9) ENSP00000505889.1:n.*1631T>G
ENST00000679457.1:c.10727T>G (AKAP9) ENSP00000505450.1:p.Leu3576Trp
ENST00000679474.1:n.10949T>G (AKAP9)
ENST00000679521.1:c.10697T>G (AKAP9) ENSP00000505456.1:p.Leu3566Trp
ENST00000679821.1:c.10493T>G (AKAP9) ENSP00000506040.1:p.Leu3498Trp
ENST00000680047.1:n.12421T>G (AKAP9)
ENST00000680072.1:c.10574T>G (AKAP9) ENSP00000506581.1:p.Leu3525Trp
ENST00000680181.1:c.10658T>G (AKAP9) ENSP00000505548.1:p.Leu3553Trp
ENST00000680365.1:c.4390T>G (AKAP9) ENSP00000506019.1:n.4390T>G
ENST00000680513.1:c.10610T>G (AKAP9) ENSP00000505284.1:p.Leu3537Trp
ENST00000680534.1:c.10790T>G (AKAP9) ENSP00000506674.1:p.Leu3597Trp
ENST00000680766.1:c.10727T>G (AKAP9) ENSP00000505204.1:p.Leu3576Trp
ENST00000680952.1:c.10727T>G (AKAP9) ENSP00000506407.1:p.Leu3576Trp
ENST00000681216.1:c.4511T>G (AKAP9) ENSP00000505551.1:n.4511T>G
ENST00000681412.1:c.10751T>G (AKAP9) ENSP00000506486.1:p.Leu3584Trp
ENST00000681722.1:c.10727T>G (AKAP9) ENSP00000506566.1:p.Leu3576Trp
ENST00000356239.7:c.10751T>G (AKAP9) ENSP00000348573.3:p.Leu3584Trp
ENST00000359028.6:c.10760T>G (AKAP9) ENSP00000351922.3:p.Leu3587Trp
ENST00000394534.6:c.4289T>G (AKAP9) ENSP00000378042.2:p.Leu1430Trp
ENST00000463118.1:n.99T>G (AKAP9)
ENST00000487258.5:n.2501T>G (AKAP9)
ENST00000487692.1:n.551T>G (AKAP9)
NM_005751.4:c.10751T>G , LRG_331t1:c.10751T>G (AKAP9) NP_005742.4:p.Leu3584Trp
NM_147185.2:c.10727T>G (AKAP9) NP_671714.1:p.Leu3576Trp
XM_006715827.1:c.10610T>G (AKAP9) XP_006715890.1:p.Leu3537Trp
XM_011515709.1:c.10898T>G (AKAP9) XP_011514011.1:p.Leu3633Trp
XM_011515710.1:c.10922T>G (AKAP9) XP_011514012.1:p.Leu3641Trp
XM_011515711.1:c.10862T>G (AKAP9) XP_011514013.1:p.Leu3621Trp
XM_011515712.1:c.10859T>G (AKAP9) XP_011514014.1:p.Leu3620Trp
XM_011515713.1:c.10844T>G (AKAP9) XP_011514015.1:p.Leu3615Trp
XM_011515714.1:c.10883T>G (AKAP9) XP_011514016.1:p.Leu3628Trp
XM_011515716.1:c.10802T>G (AKAP9) XP_011514018.1:p.Leu3601Trp
XM_011515717.1:c.10757T>G (AKAP9) XP_011514019.1:p.Leu3586Trp
XM_011515718.1:c.10787T>G (AKAP9) XP_011514020.1:p.Leu3596Trp
XM_011515719.1:c.10763T>G (AKAP9) XP_011514021.1:p.Leu3588Trp
XM_011515721.1:c.5411T>G (AKAP9) XP_011514023.1:p.Leu1804Trp
XM_011515722.1:c.5372T>G (AKAP9) XP_011514024.1:p.Leu1791Trp
XM_017011642.2:c.10886T>G (AKAP9) XP_016867131.1:p.Leu3629Trp
XM_017011643.2:c.10847T>G (AKAP9) XP_016867132.1:p.Leu3616Trp
XM_017011644.2:c.10886T>G (AKAP9) XP_016867133.1:p.Leu3629Trp
XM_017011645.2:c.10832T>G (AKAP9) XP_016867134.1:p.Leu3611Trp
XM_017011646.2:c.10847T>G (AKAP9) XP_016867135.1:p.Leu3616Trp
XM_017011647.2:c.10793T>G (AKAP9) XP_016867136.1:p.Leu3598Trp
XM_017011648.2:c.10790T>G (AKAP9) XP_016867137.1:p.Leu3597Trp
XM_017011649.2:c.10823T>G (AKAP9) XP_016867138.1:p.Leu3608Trp
XM_017011650.2:c.10751T>G (AKAP9) XP_016867139.1:p.Leu3584Trp
XM_017011651.2:c.10745T>G (AKAP9) XP_016867140.1:p.Leu3582Trp
XM_017011652.2:c.10697T>G (AKAP9) XP_016867141.1:p.Leu3566Trp
XM_017011653.2:c.10658T>G (AKAP9) XP_016867142.1:p.Leu3553Trp
XM_017011654.2:c.10610T>G (AKAP9) XP_016867143.1:p.Leu3537Trp
XM_017011655.2:c.10514T>G (AKAP9) XP_016867144.1:p.Leu3505Trp
XM_017011656.2:c.10514T>G (AKAP9) XP_016867145.1:p.Leu3505Trp
XM_017011657.2:c.6551T>G (AKAP9) XP_016867146.1:p.Leu2184Trp
XM_017011658.2:c.5435T>G (AKAP9) XP_016867147.1:p.Leu1812Trp
XM_017011659.2:c.5396T>G (AKAP9) XP_016867148.1:p.Leu1799Trp
XM_017011660.2:c.5396T>G (AKAP9) XP_016867149.1:p.Leu1799Trp
XM_024446631.1:c.10649T>G (AKAP9) XP_024302399.1:p.Leu3550Trp
NM_147185.3:c.10727T>G (AKAP9) NP_671714.1:p.Leu3576Trp
NM_001379277.1:c.5396T>G (AKAP9) NP_001366206.1:p.Leu1799Trp
NM_005751.5:c.10751T>G (AKAP9) MANE Select NP_005742.4:p.Leu3584Trp