Canonical Allele Identifier: CA368158548
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92099745A>T , CM000669.2:g.92099745A>T GRCh38
NC_000007.13:g.91729059A>T , CM000669.1:g.91729059A>T GRCh37
NC_000007.12:g.91566995A>T NCBI36
NG_011623.1:g.163871A>T , LRG_331:g.163871A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691309.1:c.1352-14143T>A (CYP51A1) ENSP00000510368.1:n.1352-14143T>A
ENST00000356239.8:c.10772A>T (AKAP9) MANE Select ENSP00000348573.3:p.Gln3591Leu
ENST00000359028.7:c.10844A>T (AKAP9) ENSP00000351922.4:p.Gln3615Leu
ENST00000394534.7:c.3764A>T (AKAP9) ENSP00000378042.3:p.Gln1255Leu
ENST00000463118.2:n.120A>T (AKAP9)
ENST00000486313.2:c.260A>T (AKAP9) ENSP00000505389.1:p.Gln87Leu
ENST00000487692.2:n.2850A>T (AKAP9)
ENST00000491695.2:c.5417A>T (AKAP9) ENSP00000494626.2:p.Gln1806Leu
ENST00000679448.1:c.*1652A>T (AKAP9) ENSP00000505889.1:n.*1652A>T
ENST00000679457.1:c.10748A>T (AKAP9) ENSP00000505450.1:p.Gln3583Leu
ENST00000679474.1:n.10970A>T (AKAP9)
ENST00000679521.1:c.10718A>T (AKAP9) ENSP00000505456.1:p.Gln3573Leu
ENST00000679821.1:c.10514A>T (AKAP9) ENSP00000506040.1:p.Gln3505Leu
ENST00000680047.1:n.12442A>T (AKAP9)
ENST00000680072.1:c.10595A>T (AKAP9) ENSP00000506581.1:p.Gln3532Leu
ENST00000680181.1:c.10679A>T (AKAP9) ENSP00000505548.1:p.Gln3560Leu
ENST00000680365.1:c.4411A>T (AKAP9) ENSP00000506019.1:n.4411A>T
ENST00000680513.1:c.10631A>T (AKAP9) ENSP00000505284.1:p.Gln3544Leu
ENST00000680534.1:c.10811A>T (AKAP9) ENSP00000506674.1:p.Gln3604Leu
ENST00000680766.1:c.10748A>T (AKAP9) ENSP00000505204.1:p.Gln3583Leu
ENST00000680952.1:c.10748A>T (AKAP9) ENSP00000506407.1:p.Gln3583Leu
ENST00000681216.1:c.4532A>T (AKAP9) ENSP00000505551.1:n.4532A>T
ENST00000681412.1:c.10772A>T (AKAP9) ENSP00000506486.1:p.Gln3591Leu
ENST00000681722.1:c.10748A>T (AKAP9) ENSP00000506566.1:p.Gln3583Leu
ENST00000356239.7:c.10772A>T (AKAP9) ENSP00000348573.3:p.Gln3591Leu
ENST00000359028.6:c.10781A>T (AKAP9) ENSP00000351922.3:p.Gln3594Leu
ENST00000394534.6:c.4310A>T (AKAP9) ENSP00000378042.2:p.Gln1437Leu
ENST00000463118.1:n.120A>T (AKAP9)
ENST00000487258.5:n.2522A>T (AKAP9)
ENST00000487692.1:n.572A>T (AKAP9)
NM_005751.4:c.10772A>T , LRG_331t1:c.10772A>T (AKAP9) NP_005742.4:p.Gln3591Leu
NM_147185.2:c.10748A>T (AKAP9) NP_671714.1:p.Gln3583Leu
XM_006715827.1:c.10631A>T (AKAP9) XP_006715890.1:p.Gln3544Leu
XM_011515709.1:c.10919A>T (AKAP9) XP_011514011.1:p.Gln3640Leu
XM_011515710.1:c.10943A>T (AKAP9) XP_011514012.1:p.Gln3648Leu
XM_011515711.1:c.10883A>T (AKAP9) XP_011514013.1:p.Gln3628Leu
XM_011515712.1:c.10880A>T (AKAP9) XP_011514014.1:p.Gln3627Leu
XM_011515713.1:c.10865A>T (AKAP9) XP_011514015.1:p.Gln3622Leu
XM_011515714.1:c.10904A>T (AKAP9) XP_011514016.1:p.Gln3635Leu
XM_011515716.1:c.10823A>T (AKAP9) XP_011514018.1:p.Gln3608Leu
XM_011515717.1:c.10778A>T (AKAP9) XP_011514019.1:p.Gln3593Leu
XM_011515718.1:c.10808A>T (AKAP9) XP_011514020.1:p.Gln3603Leu
XM_011515719.1:c.10784A>T (AKAP9) XP_011514021.1:p.Gln3595Leu
XM_011515721.1:c.5432A>T (AKAP9) XP_011514023.1:p.Gln1811Leu
XM_011515722.1:c.5393A>T (AKAP9) XP_011514024.1:p.Gln1798Leu
XM_017011642.2:c.10907A>T (AKAP9) XP_016867131.1:p.Gln3636Leu
XM_017011643.2:c.10868A>T (AKAP9) XP_016867132.1:p.Gln3623Leu
XM_017011644.2:c.10907A>T (AKAP9) XP_016867133.1:p.Gln3636Leu
XM_017011645.2:c.10853A>T (AKAP9) XP_016867134.1:p.Gln3618Leu
XM_017011646.2:c.10868A>T (AKAP9) XP_016867135.1:p.Gln3623Leu
XM_017011647.2:c.10814A>T (AKAP9) XP_016867136.1:p.Gln3605Leu
XM_017011648.2:c.10811A>T (AKAP9) XP_016867137.1:p.Gln3604Leu
XM_017011649.2:c.10844A>T (AKAP9) XP_016867138.1:p.Gln3615Leu
XM_017011650.2:c.10772A>T (AKAP9) XP_016867139.1:p.Gln3591Leu
XM_017011651.2:c.10766A>T (AKAP9) XP_016867140.1:p.Gln3589Leu
XM_017011652.2:c.10718A>T (AKAP9) XP_016867141.1:p.Gln3573Leu
XM_017011653.2:c.10679A>T (AKAP9) XP_016867142.1:p.Gln3560Leu
XM_017011654.2:c.10631A>T (AKAP9) XP_016867143.1:p.Gln3544Leu
XM_017011655.2:c.10535A>T (AKAP9) XP_016867144.1:p.Gln3512Leu
XM_017011656.2:c.10535A>T (AKAP9) XP_016867145.1:p.Gln3512Leu
XM_017011657.2:c.6572A>T (AKAP9) XP_016867146.1:p.Gln2191Leu
XM_017011658.2:c.5456A>T (AKAP9) XP_016867147.1:p.Gln1819Leu
XM_017011659.2:c.5417A>T (AKAP9) XP_016867148.1:p.Gln1806Leu
XM_017011660.2:c.5417A>T (AKAP9) XP_016867149.1:p.Gln1806Leu
XM_024446631.1:c.10670A>T (AKAP9) XP_024302399.1:p.Gln3557Leu
NM_147185.3:c.10748A>T (AKAP9) NP_671714.1:p.Gln3583Leu
NM_001379277.1:c.5417A>T (AKAP9) NP_001366206.1:p.Gln1806Leu
NM_005751.5:c.10772A>T (AKAP9) MANE Select NP_005742.4:p.Gln3591Leu