Canonical Allele Identifier: CA4338287
Community Standard Title: NM_005751.5(AKAP9):c.11696C>T (p.Thr3899Ile)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92110131C>T , CM000669.2:g.92110131C>T GRCh38
NC_000007.13:g.91739445C>T , CM000669.1:g.91739445C>T GRCh37
NC_000007.12:g.91577381C>T NCBI36
NG_011623.1:g.174257C>T , LRG_331:g.174257C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.11696C>T (AKAP9) MANE Select NP_005742.4:p.Thr3899Ile
ENST00000356239.8:c.11696C>T (AKAP9) MANE Select ENSP00000348573.3:p.Thr3899Ile
NM_001379277.1:c.6341C>T (AKAP9) NP_001366206.1:p.Thr2114Ile
NM_005751.4:c.11696C>T , LRG_331t1:c.11696C>T (AKAP9) NP_005742.4:p.Thr3899Ile
NM_147185.2:c.11672C>T (AKAP9) NP_671714.1:p.Thr3891Ile
NM_147185.3:c.11672C>T (AKAP9) NP_671714.1:p.Thr3891Ile
ENST00000356239.7:c.11696C>T (AKAP9) ENSP00000348573.3:p.Thr3899Ile
ENST00000359028.6:c.11705C>T (AKAP9) ENSP00000351922.3:p.Thr3902Ile
ENST00000359028.7:c.11768C>T (AKAP9) ENSP00000351922.4:p.Thr3923Ile
ENST00000394534.7:c.4688C>T (AKAP9) ENSP00000378042.3:p.Thr1563Ile
ENST00000486313.1:n.248C>T (AKAP9)
ENST00000486313.2:c.828C>T (AKAP9) ENSP00000505389.1:p.Tyr276=
ENST00000487258.5:n.3446C>T (AKAP9)
ENST00000487692.2:n.3455C>T (AKAP9)
ENST00000491695.2:c.6341C>T (AKAP9) ENSP00000494626.2:p.Thr2114Ile
ENST00000679448.1:c.*2576C>T (AKAP9) ENSP00000505889.1:n.*2576C>T
ENST00000679457.1:c.*1752C>T (AKAP9) ENSP00000505450.1:n.*1752C>T
ENST00000679474.1:n.12880C>T (AKAP9)
ENST00000679521.1:c.11642C>T (AKAP9) ENSP00000505456.1:p.Thr3881Ile
ENST00000679821.1:c.11438C>T (AKAP9) ENSP00000506040.1:p.Thr3813Ile
ENST00000680047.1:n.13366C>T (AKAP9)
ENST00000680072.1:c.11519C>T (AKAP9) ENSP00000506581.1:p.Thr3840Ile
ENST00000680181.1:c.11603C>T (AKAP9) ENSP00000505548.1:p.Thr3868Ile
ENST00000680365.1:c.5335C>T (AKAP9) ENSP00000506019.1:n.5335C>T
ENST00000680513.1:c.11555C>T (AKAP9) ENSP00000505284.1:p.Thr3852Ile
ENST00000680534.1:c.11735C>T (AKAP9) ENSP00000506674.1:p.Thr3912Ile
ENST00000680766.1:c.11672C>T (AKAP9) ENSP00000505204.1:p.Thr3891Ile
ENST00000680952.1:c.11456C>T (AKAP9) ENSP00000506407.1:p.Thr3819Ile
ENST00000681216.1:c.5456C>T (AKAP9) ENSP00000505551.1:n.5456C>T
ENST00000681412.1:c.*1412C>T (AKAP9) ENSP00000506486.1:n.*1412C>T
ENST00000691309.1:c.1351+6913G>A (CYP51A1) ENSP00000510368.1:n.1351+6913G>A
XM_006715827.1:c.11555C>T (AKAP9) XP_006715890.1:p.Thr3852Ile
XM_011515710.1:c.11867C>T (AKAP9) XP_011514012.1:p.Thr3956Ile
XM_011515714.1:c.11828C>T (AKAP9) XP_011514016.1:p.Thr3943Ile
XM_011515718.1:c.11732C>T (AKAP9) XP_011514020.1:p.Thr3911Ile
XM_011515719.1:c.11708C>T (AKAP9) XP_011514021.1:p.Thr3903Ile
XM_017011642.2:c.*1412C>T (AKAP9) XP_016867131.1:n.*1412C>T
XM_017011643.2:c.*1412C>T (AKAP9) XP_016867132.1:n.*1412C>T
XM_017011644.2:c.11831C>T (AKAP9) XP_016867133.1:p.Thr3944Ile
XM_017011645.2:c.*1412C>T (AKAP9) XP_016867134.1:n.*1412C>T
XM_017011646.2:c.11792C>T (AKAP9) XP_016867135.1:p.Thr3931Ile
XM_017011647.2:c.*1412C>T (AKAP9) XP_016867136.1:n.*1412C>T
XM_017011648.2:c.*1412C>T (AKAP9) XP_016867137.1:n.*1412C>T
XM_017011649.2:c.11768C>T (AKAP9) XP_016867138.1:p.Thr3923Ile
XM_017011650.2:c.*1412C>T (AKAP9) XP_016867139.1:n.*1412C>T
XM_017011651.2:c.*1412C>T (AKAP9) XP_016867140.1:n.*1412C>T
XM_017011652.2:c.*1412C>T (AKAP9) XP_016867141.1:n.*1412C>T
XM_017011653.2:c.*1412C>T (AKAP9) XP_016867142.1:n.*1412C>T
XM_017011654.2:c.*1412C>T (AKAP9) XP_016867143.1:n.*1412C>T
XM_017011655.2:c.*1412C>T (AKAP9) XP_016867144.1:n.*1412C>T
XM_017011656.2:c.*1412C>T (AKAP9) XP_016867145.1:n.*1412C>T
XM_017011657.2:c.*1412C>T (AKAP9) XP_016867146.1:n.*1412C>T
XM_017011658.2:c.*1412C>T (AKAP9) XP_016867147.1:n.*1412C>T
XM_017011659.2:c.*1412C>T (AKAP9) XP_016867148.1:n.*1412C>T
XM_017011660.2:c.6341C>T (AKAP9) XP_016867149.1:p.Thr2114Ile
XM_024446631.1:c.*1412C>T (AKAP9) XP_024302399.1:n.*1412C>T