Canonical Allele Identifier: CA456454818
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92101023T>C , CM000669.2:g.92101023T>C GRCh38
NC_000007.13:g.91730337T>C , CM000669.1:g.91730337T>C GRCh37
NC_000007.12:g.91568273T>C NCBI36
NG_011623.1:g.165149T>C , LRG_331:g.165149T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691309.1:c.1352-15421A>G (CYP51A1) ENSP00000510368.1:n.1352-15421A>G
ENST00000356239.8:c.11064T>C (AKAP9) MANE Select ENSP00000348573.3:p.Thr3688=
ENST00000359028.7:c.11136T>C (AKAP9) ENSP00000351922.4:p.Thr3712=
ENST00000394534.7:c.4056T>C (AKAP9) ENSP00000378042.3:p.Thr1352=
ENST00000463118.2:n.412T>C (AKAP9)
ENST00000486313.2:c.552T>C (AKAP9) ENSP00000505389.1:p.Thr184=
ENST00000487692.2:n.3142T>C (AKAP9)
ENST00000491695.2:c.5709T>C (AKAP9) ENSP00000494626.2:p.Thr1903=
ENST00000679448.1:c.*1944T>C (AKAP9) ENSP00000505889.1:n.*1944T>C
ENST00000679457.1:c.11040T>C (AKAP9) ENSP00000505450.1:p.Thr3680=
ENST00000679474.1:n.12248T>C (AKAP9)
ENST00000679521.1:c.11010T>C (AKAP9) ENSP00000505456.1:p.Thr3670=
ENST00000679821.1:c.10806T>C (AKAP9) ENSP00000506040.1:p.Thr3602=
ENST00000680047.1:n.12734T>C (AKAP9)
ENST00000680072.1:c.10887T>C (AKAP9) ENSP00000506581.1:p.Thr3629=
ENST00000680181.1:c.10971T>C (AKAP9) ENSP00000505548.1:p.Thr3657=
ENST00000680365.1:c.4703T>C (AKAP9) ENSP00000506019.1:n.4703T>C
ENST00000680513.1:c.10923T>C (AKAP9) ENSP00000505284.1:p.Thr3641=
ENST00000680534.1:c.11103T>C (AKAP9) ENSP00000506674.1:p.Thr3701=
ENST00000680766.1:c.11040T>C (AKAP9) ENSP00000505204.1:p.Thr3680=
ENST00000680952.1:c.11040T>C (AKAP9) ENSP00000506407.1:p.Thr3680=
ENST00000681216.1:c.4824T>C (AKAP9) ENSP00000505551.1:n.4824T>C
ENST00000681412.1:c.11064T>C (AKAP9) ENSP00000506486.1:p.Thr3688=
ENST00000681722.1:c.11040T>C (AKAP9) ENSP00000506566.1:p.Thr3680=
ENST00000356239.7:c.11064T>C (AKAP9) ENSP00000348573.3:p.Thr3688=
ENST00000359028.6:c.11073T>C (AKAP9) ENSP00000351922.3:p.Thr3691=
ENST00000394534.6:c.4602T>C (AKAP9) ENSP00000378042.2:p.Thr1534=
ENST00000463118.1:n.412T>C (AKAP9)
ENST00000487258.5:n.2814T>C (AKAP9)
NM_005751.4:c.11064T>C , LRG_331t1:c.11064T>C (AKAP9) NP_005742.4:p.Thr3688=
NM_147185.2:c.11040T>C (AKAP9) NP_671714.1:p.Thr3680=
XM_006715827.1:c.10923T>C (AKAP9) XP_006715890.1:p.Thr3641=
XM_011515709.1:c.11211T>C (AKAP9) XP_011514011.1:p.Thr3737=
XM_011515710.1:c.11235T>C (AKAP9) XP_011514012.1:p.Thr3745=
XM_011515711.1:c.11175T>C (AKAP9) XP_011514013.1:p.Thr3725=
XM_011515712.1:c.11172T>C (AKAP9) XP_011514014.1:p.Thr3724=
XM_011515713.1:c.11157T>C (AKAP9) XP_011514015.1:p.Thr3719=
XM_011515714.1:c.11196T>C (AKAP9) XP_011514016.1:p.Thr3732=
XM_011515716.1:c.11115T>C (AKAP9) XP_011514018.1:p.Thr3705=
XM_011515717.1:c.11070T>C (AKAP9) XP_011514019.1:p.Thr3690=
XM_011515718.1:c.11100T>C (AKAP9) XP_011514020.1:p.Thr3700=
XM_011515719.1:c.11076T>C (AKAP9) XP_011514021.1:p.Thr3692=
XM_011515721.1:c.5724T>C (AKAP9) XP_011514023.1:p.Thr1908=
XM_011515722.1:c.5685T>C (AKAP9) XP_011514024.1:p.Thr1895=
XM_017011642.2:c.11199T>C (AKAP9) XP_016867131.1:p.Thr3733=
XM_017011643.2:c.11160T>C (AKAP9) XP_016867132.1:p.Thr3720=
XM_017011644.2:c.11199T>C (AKAP9) XP_016867133.1:p.Thr3733=
XM_017011645.2:c.11145T>C (AKAP9) XP_016867134.1:p.Thr3715=
XM_017011646.2:c.11160T>C (AKAP9) XP_016867135.1:p.Thr3720=
XM_017011647.2:c.11106T>C (AKAP9) XP_016867136.1:p.Thr3702=
XM_017011648.2:c.11103T>C (AKAP9) XP_016867137.1:p.Thr3701=
XM_017011649.2:c.11136T>C (AKAP9) XP_016867138.1:p.Thr3712=
XM_017011650.2:c.11064T>C (AKAP9) XP_016867139.1:p.Thr3688=
XM_017011651.2:c.11058T>C (AKAP9) XP_016867140.1:p.Thr3686=
XM_017011652.2:c.11010T>C (AKAP9) XP_016867141.1:p.Thr3670=
XM_017011653.2:c.10971T>C (AKAP9) XP_016867142.1:p.Thr3657=
XM_017011654.2:c.10923T>C (AKAP9) XP_016867143.1:p.Thr3641=
XM_017011655.2:c.10827T>C (AKAP9) XP_016867144.1:p.Thr3609=
XM_017011656.2:c.10827T>C (AKAP9) XP_016867145.1:p.Thr3609=
XM_017011657.2:c.6864T>C (AKAP9) XP_016867146.1:p.Thr2288=
XM_017011658.2:c.5748T>C (AKAP9) XP_016867147.1:p.Thr1916=
XM_017011659.2:c.5709T>C (AKAP9) XP_016867148.1:p.Thr1903=
XM_017011660.2:c.5709T>C (AKAP9) XP_016867149.1:p.Thr1903=
XM_024446631.1:c.10962T>C (AKAP9) XP_024302399.1:p.Thr3654=
NM_147185.3:c.11040T>C (AKAP9) NP_671714.1:p.Thr3680=
NM_001379277.1:c.5709T>C (AKAP9) NP_001366206.1:p.Thr1903=
NM_005751.5:c.11064T>C (AKAP9) MANE Select NP_005742.4:p.Thr3688=