Canonical Allele Identifier: CA4337993
Community Standard Title: NM_005751.5(AKAP9):c.10643T>C (p.Ile3548Thr)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92098144T>C , CM000669.2:g.92098144T>C GRCh38
NC_000007.13:g.91727458T>C , CM000669.1:g.91727458T>C GRCh37
NC_000007.12:g.91565394T>C NCBI36
NG_011623.1:g.162270T>C , LRG_331:g.162270T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.10643T>C (AKAP9) MANE Select NP_005742.4:p.Ile3548Thr
ENST00000356239.8:c.10643T>C (AKAP9) MANE Select ENSP00000348573.3:p.Ile3548Thr
NM_001379277.1:c.5288T>C (AKAP9) NP_001366206.1:p.Ile1763Thr
NM_005751.4:c.10643T>C , LRG_331t1:c.10643T>C (AKAP9) NP_005742.4:p.Ile3548Thr
NM_147185.2:c.10619T>C (AKAP9) NP_671714.1:p.Ile3540Thr
NM_147185.3:c.10619T>C (AKAP9) NP_671714.1:p.Ile3540Thr
ENST00000356239.7:c.10643T>C (AKAP9) ENSP00000348573.3:p.Ile3548Thr
ENST00000359028.6:c.10652T>C (AKAP9) ENSP00000351922.3:p.Ile3551Thr
ENST00000359028.7:c.10715T>C (AKAP9) ENSP00000351922.4:p.Ile3572Thr
ENST00000394534.6:c.4181T>C (AKAP9) ENSP00000378042.2:p.Ile1394Thr
ENST00000394534.7:c.3635T>C (AKAP9) ENSP00000378042.3:p.Ile1212Thr
ENST00000486313.2:c.131T>C (AKAP9) ENSP00000505389.1:p.Ile44Thr
ENST00000487258.5:n.2393T>C (AKAP9)
ENST00000487692.1:n.443T>C (AKAP9)
ENST00000487692.2:n.2721T>C (AKAP9)
ENST00000491695.2:c.5288T>C (AKAP9) ENSP00000494626.2:p.Ile1763Thr
ENST00000679448.1:c.*1523T>C (AKAP9) ENSP00000505889.1:n.*1523T>C
ENST00000679457.1:c.10619T>C (AKAP9) ENSP00000505450.1:p.Ile3540Thr
ENST00000679474.1:n.10841T>C (AKAP9)
ENST00000679521.1:c.10589T>C (AKAP9) ENSP00000505456.1:p.Ile3530Thr
ENST00000679821.1:c.10385T>C (AKAP9) ENSP00000506040.1:p.Ile3462Thr
ENST00000680047.1:n.10841T>C (AKAP9)
ENST00000680072.1:c.10466T>C (AKAP9) ENSP00000506581.1:p.Ile3489Thr
ENST00000680181.1:c.10550T>C (AKAP9) ENSP00000505548.1:p.Ile3517Thr
ENST00000680365.1:c.4282T>C (AKAP9) ENSP00000506019.1:n.4282T>C
ENST00000680513.1:c.10502T>C (AKAP9) ENSP00000505284.1:p.Ile3501Thr
ENST00000680534.1:c.10682T>C (AKAP9) ENSP00000506674.1:p.Ile3561Thr
ENST00000680766.1:c.10619T>C (AKAP9) ENSP00000505204.1:p.Ile3540Thr
ENST00000680952.1:c.10619T>C (AKAP9) ENSP00000506407.1:p.Ile3540Thr
ENST00000681216.1:c.4403T>C (AKAP9) ENSP00000505551.1:n.4403T>C
ENST00000681412.1:c.10643T>C (AKAP9) ENSP00000506486.1:p.Ile3548Thr
ENST00000681722.1:c.10619T>C (AKAP9) ENSP00000506566.1:p.Ile3540Thr
ENST00000691309.1:c.1352-12542A>G (CYP51A1) ENSP00000510368.1:n.1352-12542A>G
XM_006715827.1:c.10502T>C (AKAP9) XP_006715890.1:p.Ile3501Thr
XM_011515709.1:c.10790T>C (AKAP9) XP_011514011.1:p.Ile3597Thr
XM_011515710.1:c.10814T>C (AKAP9) XP_011514012.1:p.Ile3605Thr
XM_011515711.1:c.10754T>C (AKAP9) XP_011514013.1:p.Ile3585Thr
XM_011515712.1:c.10751T>C (AKAP9) XP_011514014.1:p.Ile3584Thr
XM_011515713.1:c.10736T>C (AKAP9) XP_011514015.1:p.Ile3579Thr
XM_011515714.1:c.10775T>C (AKAP9) XP_011514016.1:p.Ile3592Thr
XM_011515716.1:c.10694T>C (AKAP9) XP_011514018.1:p.Ile3565Thr
XM_011515717.1:c.10649T>C (AKAP9) XP_011514019.1:p.Ile3550Thr
XM_011515718.1:c.10679T>C (AKAP9) XP_011514020.1:p.Ile3560Thr
XM_011515719.1:c.10655T>C (AKAP9) XP_011514021.1:p.Ile3552Thr
XM_011515721.1:c.5303T>C (AKAP9) XP_011514023.1:p.Ile1768Thr
XM_011515722.1:c.5264T>C (AKAP9) XP_011514024.1:p.Ile1755Thr
XM_017011642.2:c.10778T>C (AKAP9) XP_016867131.1:p.Ile3593Thr
XM_017011643.2:c.10739T>C (AKAP9) XP_016867132.1:p.Ile3580Thr
XM_017011644.2:c.10778T>C (AKAP9) XP_016867133.1:p.Ile3593Thr
XM_017011645.2:c.10724T>C (AKAP9) XP_016867134.1:p.Ile3575Thr
XM_017011646.2:c.10739T>C (AKAP9) XP_016867135.1:p.Ile3580Thr
XM_017011647.2:c.10685T>C (AKAP9) XP_016867136.1:p.Ile3562Thr
XM_017011648.2:c.10682T>C (AKAP9) XP_016867137.1:p.Ile3561Thr
XM_017011649.2:c.10715T>C (AKAP9) XP_016867138.1:p.Ile3572Thr
XM_017011650.2:c.10643T>C (AKAP9) XP_016867139.1:p.Ile3548Thr
XM_017011651.2:c.10637T>C (AKAP9) XP_016867140.1:p.Ile3546Thr
XM_017011652.2:c.10589T>C (AKAP9) XP_016867141.1:p.Ile3530Thr
XM_017011653.2:c.10550T>C (AKAP9) XP_016867142.1:p.Ile3517Thr
XM_017011654.2:c.10502T>C (AKAP9) XP_016867143.1:p.Ile3501Thr
XM_017011655.2:c.10406T>C (AKAP9) XP_016867144.1:p.Ile3469Thr
XM_017011656.2:c.10406T>C (AKAP9) XP_016867145.1:p.Ile3469Thr
XM_017011657.2:c.6443T>C (AKAP9) XP_016867146.1:p.Ile2148Thr
XM_017011658.2:c.5327T>C (AKAP9) XP_016867147.1:p.Ile1776Thr
XM_017011659.2:c.5288T>C (AKAP9) XP_016867148.1:p.Ile1763Thr
XM_017011660.2:c.5288T>C (AKAP9) XP_016867149.1:p.Ile1763Thr
XM_024446631.1:c.10541T>C (AKAP9) XP_024302399.1:p.Ile3514Thr