Canonical Allele Identifier: CA4338140
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 457084
dbSNP Id: rs149979685
gnomAD v2: 7-91732110-C-T
gnomAD v3: 7-92102796-C-T
gnomAD v4: 7-92102796-C-T

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000691309.1:c.1351+14248G>A (CYP51A1) ENSP00000510368.1:n.1351+14248G>A
ENST00000356239.8:c.11300C>T (AKAP9) MANE Select ENSP00000348573.3:p.Ser3767Leu
ENST00000359028.7:c.11372C>T (AKAP9) ENSP00000351922.4:p.Ser3791Leu
ENST00000394534.7:c.4292C>T (AKAP9) ENSP00000378042.3:p.Ser1431Leu
ENST00000463118.2:n.555C>T (AKAP9)
ENST00000486313.2:c.788C>T (AKAP9) ENSP00000505389.1:p.Ser263Leu
ENST00000487692.2:n.3175+1740C>T (AKAP9)
ENST00000491695.2:c.5945C>T (AKAP9) ENSP00000494626.2:p.Ser1982Leu
ENST00000679448.1:c.*2180C>T (AKAP9) ENSP00000505889.1:n.*2180C>T
ENST00000679457.1:c.11276C>T (AKAP9) ENSP00000505450.1:p.Ser3759Leu
ENST00000679474.1:n.12484C>T (AKAP9)
ENST00000679521.1:c.11246C>T (AKAP9) ENSP00000505456.1:p.Ser3749Leu
ENST00000679821.1:c.11042C>T (AKAP9) ENSP00000506040.1:p.Ser3681Leu
ENST00000680047.1:n.12970C>T (AKAP9)
ENST00000680072.1:c.11123C>T (AKAP9) ENSP00000506581.1:p.Ser3708Leu
ENST00000680181.1:c.11207C>T (AKAP9) ENSP00000505548.1:p.Ser3736Leu
ENST00000680365.1:c.4939C>T (AKAP9) ENSP00000506019.1:n.4939C>T
ENST00000680513.1:c.11159C>T (AKAP9) ENSP00000505284.1:p.Ser3720Leu
ENST00000680534.1:c.11339C>T (AKAP9) ENSP00000506674.1:p.Ser3780Leu
ENST00000680766.1:c.11276C>T (AKAP9) ENSP00000505204.1:p.Ser3759Leu
ENST00000680952.1:c.11276C>T (AKAP9) ENSP00000506407.1:p.Ser3759Leu
ENST00000681216.1:c.5060C>T (AKAP9) ENSP00000505551.1:n.5060C>T
ENST00000681412.1:c.11300C>T (AKAP9) ENSP00000506486.1:p.Ser3767Leu
ENST00000681722.1:c.11276C>T (AKAP9) ENSP00000506566.1:p.Ser3759Leu
ENST00000356239.7:c.11300C>T (AKAP9) ENSP00000348573.3:p.Ser3767Leu
ENST00000359028.6:c.11309C>T (AKAP9) ENSP00000351922.3:p.Ser3770Leu
ENST00000394534.6:c.4838C>T (AKAP9) ENSP00000378042.2:p.Ser1613Leu
ENST00000463118.1:n.555C>T (AKAP9)
ENST00000486313.1:n.208C>T (AKAP9)
ENST00000487258.5:n.3050C>T (AKAP9)
NM_005751.4:c.11300C>T , LRG_331t1:c.11300C>T (AKAP9) NP_005742.4:p.Ser3767Leu
NM_147185.2:c.11276C>T (AKAP9) NP_671714.1:p.Ser3759Leu
XM_006715827.1:c.11159C>T (AKAP9) XP_006715890.1:p.Ser3720Leu
XM_011515709.1:c.11447C>T (AKAP9) XP_011514011.1:p.Ser3816Leu
XM_011515710.1:c.11471C>T (AKAP9) XP_011514012.1:p.Ser3824Leu
XM_011515711.1:c.11411C>T (AKAP9) XP_011514013.1:p.Ser3804Leu
XM_011515712.1:c.11408C>T (AKAP9) XP_011514014.1:p.Ser3803Leu
XM_011515713.1:c.11393C>T (AKAP9) XP_011514015.1:p.Ser3798Leu
XM_011515714.1:c.11432C>T (AKAP9) XP_011514016.1:p.Ser3811Leu
XM_011515716.1:c.11351C>T (AKAP9) XP_011514018.1:p.Ser3784Leu
XM_011515717.1:c.11306C>T (AKAP9) XP_011514019.1:p.Ser3769Leu
XM_011515718.1:c.11336C>T (AKAP9) XP_011514020.1:p.Ser3779Leu
XM_011515719.1:c.11312C>T (AKAP9) XP_011514021.1:p.Ser3771Leu
XM_011515721.1:c.5960C>T (AKAP9) XP_011514023.1:p.Ser1987Leu
XM_011515722.1:c.5921C>T (AKAP9) XP_011514024.1:p.Ser1974Leu
XM_017011642.2:c.11435C>T (AKAP9) XP_016867131.1:p.Ser3812Leu
XM_017011643.2:c.11396C>T (AKAP9) XP_016867132.1:p.Ser3799Leu
XM_017011644.2:c.11435C>T (AKAP9) XP_016867133.1:p.Ser3812Leu
XM_017011645.2:c.11381C>T (AKAP9) XP_016867134.1:p.Ser3794Leu
XM_017011646.2:c.11396C>T (AKAP9) XP_016867135.1:p.Ser3799Leu
XM_017011647.2:c.11342C>T (AKAP9) XP_016867136.1:p.Ser3781Leu
XM_017011648.2:c.11339C>T (AKAP9) XP_016867137.1:p.Ser3780Leu
XM_017011649.2:c.11372C>T (AKAP9) XP_016867138.1:p.Ser3791Leu
XM_017011650.2:c.11300C>T (AKAP9) XP_016867139.1:p.Ser3767Leu
XM_017011651.2:c.11294C>T (AKAP9) XP_016867140.1:p.Ser3765Leu
XM_017011652.2:c.11246C>T (AKAP9) XP_016867141.1:p.Ser3749Leu
XM_017011653.2:c.11207C>T (AKAP9) XP_016867142.1:p.Ser3736Leu
XM_017011654.2:c.11159C>T (AKAP9) XP_016867143.1:p.Ser3720Leu
XM_017011655.2:c.11063C>T (AKAP9) XP_016867144.1:p.Ser3688Leu
XM_017011656.2:c.11063C>T (AKAP9) XP_016867145.1:p.Ser3688Leu
XM_017011657.2:c.7100C>T (AKAP9) XP_016867146.1:p.Ser2367Leu
XM_017011658.2:c.5984C>T (AKAP9) XP_016867147.1:p.Ser1995Leu
XM_017011659.2:c.5945C>T (AKAP9) XP_016867148.1:p.Ser1982Leu
XM_017011660.2:c.5945C>T (AKAP9) XP_016867149.1:p.Ser1982Leu
XM_024446631.1:c.11198C>T (AKAP9) XP_024302399.1:p.Ser3733Leu
NM_147185.3:c.11276C>T (AKAP9) NP_671714.1:p.Ser3759Leu
NM_001379277.1:c.5945C>T (AKAP9) NP_001366206.1:p.Ser1982Leu
NM_005751.5:c.11300C>T (AKAP9) MANE Select NP_005742.4:p.Ser3767Leu