Canonical Allele Identifier: CA1725773432
Community Standard Title: NM_005751.5(AKAP9):c.11300C= (p.Ser3767=)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92102796C= , CM000669.2:g.92102796C= GRCh38
NC_000007.13:g.91732110C= , CM000669.1:g.91732110C= GRCh37
NC_000007.12:g.91570046C= NCBI36
NG_011623.1:g.166922C= , LRG_331:g.166922C=

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.11300C= (AKAP9) MANE Select NP_005742.4:p.Ser3767=
ENST00000356239.8:c.11300C= (AKAP9) MANE Select ENSP00000348573.3:p.Ser3767=
NM_001379277.1:c.5945C= (AKAP9) NP_001366206.1:p.Ser1982=
NM_005751.4:c.11300C= , LRG_331t1:c.11300C= (AKAP9) NP_005742.4:p.Ser3767=
NM_147185.2:c.11276C= (AKAP9) NP_671714.1:p.Ser3759=
NM_147185.3:c.11276C= (AKAP9) NP_671714.1:p.Ser3759=
ENST00000356239.7:c.11300C= (AKAP9) ENSP00000348573.3:p.Ser3767=
ENST00000359028.6:c.11309C= (AKAP9) ENSP00000351922.3:p.Ser3770=
ENST00000359028.7:c.11372C= (AKAP9) ENSP00000351922.4:p.Ser3791=
ENST00000394534.6:c.4838C= (AKAP9) ENSP00000378042.2:p.Ser1613=
ENST00000394534.7:c.4292C= (AKAP9) ENSP00000378042.3:p.Ser1431=
ENST00000463118.1:n.555C= (AKAP9)
ENST00000463118.2:n.555C= (AKAP9)
ENST00000486313.1:n.208C= (AKAP9)
ENST00000486313.2:c.788C= (AKAP9) ENSP00000505389.1:p.Ser263=
ENST00000487258.5:n.3050C= (AKAP9)
ENST00000487692.2:n.3175+1740C= (AKAP9)
ENST00000491695.2:c.5945C= (AKAP9) ENSP00000494626.2:p.Ser1982=
ENST00000679448.1:c.*2180C= (AKAP9) ENSP00000505889.1:n.*2180C=
ENST00000679457.1:c.11276C= (AKAP9) ENSP00000505450.1:p.Ser3759=
ENST00000679474.1:n.12484C= (AKAP9)
ENST00000679521.1:c.11246C= (AKAP9) ENSP00000505456.1:p.Ser3749=
ENST00000679821.1:c.11042C= (AKAP9) ENSP00000506040.1:p.Ser3681=
ENST00000680047.1:n.12970C= (AKAP9)
ENST00000680072.1:c.11123C= (AKAP9) ENSP00000506581.1:p.Ser3708=
ENST00000680181.1:c.11207C= (AKAP9) ENSP00000505548.1:p.Ser3736=
ENST00000680365.1:c.4939C= (AKAP9) ENSP00000506019.1:n.4939C=
ENST00000680513.1:c.11159C= (AKAP9) ENSP00000505284.1:p.Ser3720=
ENST00000680534.1:c.11339C= (AKAP9) ENSP00000506674.1:p.Ser3780=
ENST00000680766.1:c.11276C= (AKAP9) ENSP00000505204.1:p.Ser3759=
ENST00000680952.1:c.11276C= (AKAP9) ENSP00000506407.1:p.Ser3759=
ENST00000681216.1:c.5060C= (AKAP9) ENSP00000505551.1:n.5060C=
ENST00000681412.1:c.11300C= (AKAP9) ENSP00000506486.1:p.Ser3767=
ENST00000681722.1:c.11276C= (AKAP9) ENSP00000506566.1:p.Ser3759=
ENST00000691309.1:c.1351+14248G= (CYP51A1) ENSP00000510368.1:n.1351+14248G=
XM_006715827.1:c.11159C= (AKAP9) XP_006715890.1:p.Ser3720=
XM_011515709.1:c.11447C= (AKAP9) XP_011514011.1:p.Ser3816=
XM_011515710.1:c.11471C= (AKAP9) XP_011514012.1:p.Ser3824=
XM_011515711.1:c.11411C= (AKAP9) XP_011514013.1:p.Ser3804=
XM_011515712.1:c.11408C= (AKAP9) XP_011514014.1:p.Ser3803=
XM_011515713.1:c.11393C= (AKAP9) XP_011514015.1:p.Ser3798=
XM_011515714.1:c.11432C= (AKAP9) XP_011514016.1:p.Ser3811=
XM_011515716.1:c.11351C= (AKAP9) XP_011514018.1:p.Ser3784=
XM_011515717.1:c.11306C= (AKAP9) XP_011514019.1:p.Ser3769=
XM_011515718.1:c.11336C= (AKAP9) XP_011514020.1:p.Ser3779=
XM_011515719.1:c.11312C= (AKAP9) XP_011514021.1:p.Ser3771=
XM_011515721.1:c.5960C= (AKAP9) XP_011514023.1:p.Ser1987=
XM_011515722.1:c.5921C= (AKAP9) XP_011514024.1:p.Ser1974=
XM_017011642.2:c.11435C= (AKAP9) XP_016867131.1:p.Ser3812=
XM_017011643.2:c.11396C= (AKAP9) XP_016867132.1:p.Ser3799=
XM_017011644.2:c.11435C= (AKAP9) XP_016867133.1:p.Ser3812=
XM_017011645.2:c.11381C= (AKAP9) XP_016867134.1:p.Ser3794=
XM_017011646.2:c.11396C= (AKAP9) XP_016867135.1:p.Ser3799=
XM_017011647.2:c.11342C= (AKAP9) XP_016867136.1:p.Ser3781=
XM_017011648.2:c.11339C= (AKAP9) XP_016867137.1:p.Ser3780=
XM_017011649.2:c.11372C= (AKAP9) XP_016867138.1:p.Ser3791=
XM_017011650.2:c.11300C= (AKAP9) XP_016867139.1:p.Ser3767=
XM_017011651.2:c.11294C= (AKAP9) XP_016867140.1:p.Ser3765=
XM_017011652.2:c.11246C= (AKAP9) XP_016867141.1:p.Ser3749=
XM_017011653.2:c.11207C= (AKAP9) XP_016867142.1:p.Ser3736=
XM_017011654.2:c.11159C= (AKAP9) XP_016867143.1:p.Ser3720=
XM_017011655.2:c.11063C= (AKAP9) XP_016867144.1:p.Ser3688=
XM_017011656.2:c.11063C= (AKAP9) XP_016867145.1:p.Ser3688=
XM_017011657.2:c.7100C= (AKAP9) XP_016867146.1:p.Ser2367=
XM_017011658.2:c.5984C= (AKAP9) XP_016867147.1:p.Ser1995=
XM_017011659.2:c.5945C= (AKAP9) XP_016867148.1:p.Ser1982=
XM_017011660.2:c.5945C= (AKAP9) XP_016867149.1:p.Ser1982=
XM_024446631.1:c.11198C= (AKAP9) XP_024302399.1:p.Ser3733=