Canonical Allele Identifier: CA368156509
Community Standard Title: NM_005751.5(AKAP9):c.10481A>G (p.Asn3494Ser)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92097668A>G , CM000669.2:g.92097668A>G GRCh38
NC_000007.13:g.91726982A>G , CM000669.1:g.91726982A>G GRCh37
NC_000007.12:g.91564918A>G NCBI36
NG_011623.1:g.161794A>G , LRG_331:g.161794A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.10481A>G (AKAP9) MANE Select NP_005742.4:p.Asn3494Ser
ENST00000356239.8:c.10481A>G (AKAP9) MANE Select ENSP00000348573.3:p.Asn3494Ser
NM_001379277.1:c.5126A>G (AKAP9) NP_001366206.1:p.Asn1709Ser
NM_005751.4:c.10481A>G , LRG_331t1:c.10481A>G (AKAP9) NP_005742.4:p.Asn3494Ser
NM_147185.2:c.10457A>G (AKAP9) NP_671714.1:p.Asn3486Ser
NM_147185.3:c.10457A>G (AKAP9) NP_671714.1:p.Asn3486Ser
ENST00000356239.7:c.10481A>G (AKAP9) ENSP00000348573.3:p.Asn3494Ser
ENST00000359028.6:c.10490A>G (AKAP9) ENSP00000351922.3:p.Asn3497Ser
ENST00000359028.7:c.10553A>G (AKAP9) ENSP00000351922.4:p.Asn3518Ser
ENST00000394534.6:c.4019A>G (AKAP9) ENSP00000378042.2:p.Asn1340Ser
ENST00000394534.7:c.3473A>G (AKAP9) ENSP00000378042.3:p.Asn1158Ser
ENST00000487258.5:n.2231A>G (AKAP9)
ENST00000487692.1:n.281A>G (AKAP9)
ENST00000487692.2:n.2559A>G (AKAP9)
ENST00000491695.2:c.5126A>G (AKAP9) ENSP00000494626.2:p.Asn1709Ser
ENST00000679448.1:c.*1361A>G (AKAP9) ENSP00000505889.1:n.*1361A>G
ENST00000679457.1:c.10457A>G (AKAP9) ENSP00000505450.1:p.Asn3486Ser
ENST00000679474.1:n.10679A>G (AKAP9)
ENST00000679521.1:c.10427A>G (AKAP9) ENSP00000505456.1:p.Asn3476Ser
ENST00000679821.1:c.10223A>G (AKAP9) ENSP00000506040.1:p.Asn3408Ser
ENST00000680047.1:n.10679A>G (AKAP9)
ENST00000680072.1:c.10304A>G (AKAP9) ENSP00000506581.1:p.Asn3435Ser
ENST00000680181.1:c.10388A>G (AKAP9) ENSP00000505548.1:p.Asn3463Ser
ENST00000680365.1:c.4120A>G (AKAP9) ENSP00000506019.1:n.4120A>G
ENST00000680513.1:c.10340A>G (AKAP9) ENSP00000505284.1:p.Asn3447Ser
ENST00000680534.1:c.10520A>G (AKAP9) ENSP00000506674.1:p.Asn3507Ser
ENST00000680766.1:c.10457A>G (AKAP9) ENSP00000505204.1:p.Asn3486Ser
ENST00000680952.1:c.10457A>G (AKAP9) ENSP00000506407.1:p.Asn3486Ser
ENST00000681216.1:c.4241A>G (AKAP9) ENSP00000505551.1:n.4241A>G
ENST00000681412.1:c.10481A>G (AKAP9) ENSP00000506486.1:p.Asn3494Ser
ENST00000681722.1:c.10457A>G (AKAP9) ENSP00000506566.1:p.Asn3486Ser
ENST00000691309.1:c.1352-12066T>C (CYP51A1) ENSP00000510368.1:n.1352-12066T>C
XM_006715827.1:c.10340A>G (AKAP9) XP_006715890.1:p.Asn3447Ser
XM_011515709.1:c.10628A>G (AKAP9) XP_011514011.1:p.Asn3543Ser
XM_011515710.1:c.10652A>G (AKAP9) XP_011514012.1:p.Asn3551Ser
XM_011515711.1:c.10592A>G (AKAP9) XP_011514013.1:p.Asn3531Ser
XM_011515712.1:c.10589A>G (AKAP9) XP_011514014.1:p.Asn3530Ser
XM_011515713.1:c.10574A>G (AKAP9) XP_011514015.1:p.Asn3525Ser
XM_011515714.1:c.10613A>G (AKAP9) XP_011514016.1:p.Asn3538Ser
XM_011515716.1:c.10532A>G (AKAP9) XP_011514018.1:p.Asn3511Ser
XM_011515717.1:c.10487A>G (AKAP9) XP_011514019.1:p.Asn3496Ser
XM_011515718.1:c.10517A>G (AKAP9) XP_011514020.1:p.Asn3506Ser
XM_011515719.1:c.10493A>G (AKAP9) XP_011514021.1:p.Asn3498Ser
XM_011515721.1:c.5141A>G (AKAP9) XP_011514023.1:p.Asn1714Ser
XM_011515722.1:c.5102A>G (AKAP9) XP_011514024.1:p.Asn1701Ser
XM_017011642.2:c.10616A>G (AKAP9) XP_016867131.1:p.Asn3539Ser
XM_017011643.2:c.10577A>G (AKAP9) XP_016867132.1:p.Asn3526Ser
XM_017011644.2:c.10616A>G (AKAP9) XP_016867133.1:p.Asn3539Ser
XM_017011645.2:c.10562A>G (AKAP9) XP_016867134.1:p.Asn3521Ser
XM_017011646.2:c.10577A>G (AKAP9) XP_016867135.1:p.Asn3526Ser
XM_017011647.2:c.10523A>G (AKAP9) XP_016867136.1:p.Asn3508Ser
XM_017011648.2:c.10520A>G (AKAP9) XP_016867137.1:p.Asn3507Ser
XM_017011649.2:c.10553A>G (AKAP9) XP_016867138.1:p.Asn3518Ser
XM_017011650.2:c.10481A>G (AKAP9) XP_016867139.1:p.Asn3494Ser
XM_017011651.2:c.10475A>G (AKAP9) XP_016867140.1:p.Asn3492Ser
XM_017011652.2:c.10427A>G (AKAP9) XP_016867141.1:p.Asn3476Ser
XM_017011653.2:c.10388A>G (AKAP9) XP_016867142.1:p.Asn3463Ser
XM_017011654.2:c.10340A>G (AKAP9) XP_016867143.1:p.Asn3447Ser
XM_017011655.2:c.10244A>G (AKAP9) XP_016867144.1:p.Asn3415Ser
XM_017011656.2:c.10244A>G (AKAP9) XP_016867145.1:p.Asn3415Ser
XM_017011657.2:c.6281A>G (AKAP9) XP_016867146.1:p.Asn2094Ser
XM_017011658.2:c.5165A>G (AKAP9) XP_016867147.1:p.Asn1722Ser
XM_017011659.2:c.5126A>G (AKAP9) XP_016867148.1:p.Asn1709Ser
XM_017011660.2:c.5126A>G (AKAP9) XP_016867149.1:p.Asn1709Ser
XM_024446631.1:c.10379A>G (AKAP9) XP_024302399.1:p.Asn3460Ser