Canonical Allele Identifier: CA368158927
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92099828C>T , CM000669.2:g.92099828C>T GRCh38
NC_000007.13:g.91729142C>T , CM000669.1:g.91729142C>T GRCh37
NC_000007.12:g.91567078C>T NCBI36
NG_011623.1:g.163954C>T , LRG_331:g.163954C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691309.1:c.1352-14226G>A (CYP51A1) ENSP00000510368.1:n.1352-14226G>A
ENST00000356239.8:c.10855C>T (AKAP9) MANE Select ENSP00000348573.3:p.Gln3619Ter
ENST00000359028.7:c.10927C>T (AKAP9) ENSP00000351922.4:p.Gln3643Ter
ENST00000394534.7:c.3847C>T (AKAP9) ENSP00000378042.3:p.Gln1283Ter
ENST00000463118.2:n.203C>T (AKAP9)
ENST00000486313.2:c.343C>T (AKAP9) ENSP00000505389.1:p.Gln115Ter
ENST00000487692.2:n.2933C>T (AKAP9)
ENST00000491695.2:c.5500C>T (AKAP9) ENSP00000494626.2:p.Gln1834Ter
ENST00000679448.1:c.*1735C>T (AKAP9) ENSP00000505889.1:n.*1735C>T
ENST00000679457.1:c.10831C>T (AKAP9) ENSP00000505450.1:p.Gln3611Ter
ENST00000679474.1:n.11053C>T (AKAP9)
ENST00000679521.1:c.10801C>T (AKAP9) ENSP00000505456.1:p.Gln3601Ter
ENST00000679821.1:c.10597C>T (AKAP9) ENSP00000506040.1:p.Gln3533Ter
ENST00000680047.1:n.12525C>T (AKAP9)
ENST00000680072.1:c.10678C>T (AKAP9) ENSP00000506581.1:p.Gln3560Ter
ENST00000680181.1:c.10762C>T (AKAP9) ENSP00000505548.1:p.Gln3588Ter
ENST00000680365.1:c.4494C>T (AKAP9) ENSP00000506019.1:n.4494C>T
ENST00000680513.1:c.10714C>T (AKAP9) ENSP00000505284.1:p.Gln3572Ter
ENST00000680534.1:c.10894C>T (AKAP9) ENSP00000506674.1:p.Gln3632Ter
ENST00000680766.1:c.10831C>T (AKAP9) ENSP00000505204.1:p.Gln3611Ter
ENST00000680952.1:c.10831C>T (AKAP9) ENSP00000506407.1:p.Gln3611Ter
ENST00000681216.1:c.4615C>T (AKAP9) ENSP00000505551.1:n.4615C>T
ENST00000681412.1:c.10855C>T (AKAP9) ENSP00000506486.1:p.Gln3619Ter
ENST00000681722.1:c.10831C>T (AKAP9) ENSP00000506566.1:p.Gln3611Ter
ENST00000356239.7:c.10855C>T (AKAP9) ENSP00000348573.3:p.Gln3619Ter
ENST00000359028.6:c.10864C>T (AKAP9) ENSP00000351922.3:p.Gln3622Ter
ENST00000394534.6:c.4393C>T (AKAP9) ENSP00000378042.2:p.Gln1465Ter
ENST00000463118.1:n.203C>T (AKAP9)
ENST00000487258.5:n.2605C>T (AKAP9)
ENST00000487692.1:n.655C>T (AKAP9)
NM_005751.4:c.10855C>T , LRG_331t1:c.10855C>T (AKAP9) NP_005742.4:p.Gln3619Ter
NM_147185.2:c.10831C>T (AKAP9) NP_671714.1:p.Gln3611Ter
XM_006715827.1:c.10714C>T (AKAP9) XP_006715890.1:p.Gln3572Ter
XM_011515709.1:c.11002C>T (AKAP9) XP_011514011.1:p.Gln3668Ter
XM_011515710.1:c.11026C>T (AKAP9) XP_011514012.1:p.Gln3676Ter
XM_011515711.1:c.10966C>T (AKAP9) XP_011514013.1:p.Gln3656Ter
XM_011515712.1:c.10963C>T (AKAP9) XP_011514014.1:p.Gln3655Ter
XM_011515713.1:c.10948C>T (AKAP9) XP_011514015.1:p.Gln3650Ter
XM_011515714.1:c.10987C>T (AKAP9) XP_011514016.1:p.Gln3663Ter
XM_011515716.1:c.10906C>T (AKAP9) XP_011514018.1:p.Gln3636Ter
XM_011515717.1:c.10861C>T (AKAP9) XP_011514019.1:p.Gln3621Ter
XM_011515718.1:c.10891C>T (AKAP9) XP_011514020.1:p.Gln3631Ter
XM_011515719.1:c.10867C>T (AKAP9) XP_011514021.1:p.Gln3623Ter
XM_011515721.1:c.5515C>T (AKAP9) XP_011514023.1:p.Gln1839Ter
XM_011515722.1:c.5476C>T (AKAP9) XP_011514024.1:p.Gln1826Ter
XM_017011642.2:c.10990C>T (AKAP9) XP_016867131.1:p.Gln3664Ter
XM_017011643.2:c.10951C>T (AKAP9) XP_016867132.1:p.Gln3651Ter
XM_017011644.2:c.10990C>T (AKAP9) XP_016867133.1:p.Gln3664Ter
XM_017011645.2:c.10936C>T (AKAP9) XP_016867134.1:p.Gln3646Ter
XM_017011646.2:c.10951C>T (AKAP9) XP_016867135.1:p.Gln3651Ter
XM_017011647.2:c.10897C>T (AKAP9) XP_016867136.1:p.Gln3633Ter
XM_017011648.2:c.10894C>T (AKAP9) XP_016867137.1:p.Gln3632Ter
XM_017011649.2:c.10927C>T (AKAP9) XP_016867138.1:p.Gln3643Ter
XM_017011650.2:c.10855C>T (AKAP9) XP_016867139.1:p.Gln3619Ter
XM_017011651.2:c.10849C>T (AKAP9) XP_016867140.1:p.Gln3617Ter
XM_017011652.2:c.10801C>T (AKAP9) XP_016867141.1:p.Gln3601Ter
XM_017011653.2:c.10762C>T (AKAP9) XP_016867142.1:p.Gln3588Ter
XM_017011654.2:c.10714C>T (AKAP9) XP_016867143.1:p.Gln3572Ter
XM_017011655.2:c.10618C>T (AKAP9) XP_016867144.1:p.Gln3540Ter
XM_017011656.2:c.10618C>T (AKAP9) XP_016867145.1:p.Gln3540Ter
XM_017011657.2:c.6655C>T (AKAP9) XP_016867146.1:p.Gln2219Ter
XM_017011658.2:c.5539C>T (AKAP9) XP_016867147.1:p.Gln1847Ter
XM_017011659.2:c.5500C>T (AKAP9) XP_016867148.1:p.Gln1834Ter
XM_017011660.2:c.5500C>T (AKAP9) XP_016867149.1:p.Gln1834Ter
XM_024446631.1:c.10753C>T (AKAP9) XP_024302399.1:p.Gln3585Ter
NM_147185.3:c.10831C>T (AKAP9) NP_671714.1:p.Gln3611Ter
NM_001379277.1:c.5500C>T (AKAP9) NP_001366206.1:p.Gln1834Ter
NM_005751.5:c.10855C>T (AKAP9) MANE Select NP_005742.4:p.Gln3619Ter