Canonical Allele Identifier: CA4337859
Community Standard Title: NM_005751.5(AKAP9):c.9862T>G (p.Leu3288Val)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92096821T>G , CM000669.2:g.92096821T>G GRCh38
NC_000007.13:g.91726135T>G , CM000669.1:g.91726135T>G GRCh37
NC_000007.12:g.91564071T>G NCBI36
NG_011623.1:g.160947T>G , LRG_331:g.160947T>G

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9862T>G (AKAP9) MANE Select NP_005742.4:p.Leu3288Val
ENST00000356239.8:c.9862T>G (AKAP9) MANE Select ENSP00000348573.3:p.Leu3288Val
NM_001379277.1:c.4507T>G (AKAP9) NP_001366206.1:p.Leu1503Val
NM_005751.4:c.9862T>G , LRG_331t1:c.9862T>G (AKAP9) NP_005742.4:p.Leu3288Val
NM_147185.2:c.9838T>G (AKAP9) NP_671714.1:p.Leu3280Val
NM_147185.3:c.9838T>G (AKAP9) NP_671714.1:p.Leu3280Val
ENST00000356239.7:c.9862T>G (AKAP9) ENSP00000348573.3:p.Leu3288Val
ENST00000359028.6:c.9871T>G (AKAP9) ENSP00000351922.3:p.Leu3291Val
ENST00000359028.7:c.9934T>G (AKAP9) ENSP00000351922.4:p.Leu3312Val
ENST00000394534.6:c.3400T>G (AKAP9) ENSP00000378042.2:p.Leu1134Val
ENST00000394534.7:c.3355T>G (AKAP9) ENSP00000378042.3:p.Leu1119Val
ENST00000487258.5:n.1612T>G (AKAP9)
ENST00000487692.2:n.1940T>G (AKAP9)
ENST00000491695.2:c.4507T>G (AKAP9) ENSP00000494626.2:p.Leu1503Val
ENST00000679448.1:c.*742T>G (AKAP9) ENSP00000505889.1:n.*742T>G
ENST00000679457.1:c.9838T>G (AKAP9) ENSP00000505450.1:p.Leu3280Val
ENST00000679474.1:n.10060T>G (AKAP9)
ENST00000679521.1:c.9808T>G (AKAP9) ENSP00000505456.1:p.Leu3270Val
ENST00000679821.1:c.9604T>G (AKAP9) ENSP00000506040.1:p.Leu3202Val
ENST00000680047.1:n.10060T>G (AKAP9)
ENST00000680072.1:c.9685T>G (AKAP9) ENSP00000506581.1:p.Leu3229Val
ENST00000680181.1:c.9769T>G (AKAP9) ENSP00000505548.1:p.Leu3257Val
ENST00000680365.1:c.3501T>G (AKAP9) ENSP00000506019.1:n.3501T>G
ENST00000680513.1:c.9721T>G (AKAP9) ENSP00000505284.1:p.Leu3241Val
ENST00000680534.1:c.9901T>G (AKAP9) ENSP00000506674.1:p.Leu3301Val
ENST00000680766.1:c.9838T>G (AKAP9) ENSP00000505204.1:p.Leu3280Val
ENST00000680952.1:c.9838T>G (AKAP9) ENSP00000506407.1:p.Leu3280Val
ENST00000681216.1:c.3622T>G (AKAP9) ENSP00000505551.1:n.3622T>G
ENST00000681412.1:c.9862T>G (AKAP9) ENSP00000506486.1:p.Leu3288Val
ENST00000681722.1:c.9838T>G (AKAP9) ENSP00000506566.1:p.Leu3280Val
ENST00000691309.1:c.1352-11219A>C (CYP51A1) ENSP00000510368.1:n.1352-11219A>C
XM_006715827.1:c.9721T>G (AKAP9) XP_006715890.1:p.Leu3241Val
XM_011515709.1:c.10009T>G (AKAP9) XP_011514011.1:p.Leu3337Val
XM_011515710.1:c.10033T>G (AKAP9) XP_011514012.1:p.Leu3345Val
XM_011515711.1:c.9973T>G (AKAP9) XP_011514013.1:p.Leu3325Val
XM_011515712.1:c.9970T>G (AKAP9) XP_011514014.1:p.Leu3324Val
XM_011515713.1:c.9955T>G (AKAP9) XP_011514015.1:p.Leu3319Val
XM_011515714.1:c.9994T>G (AKAP9) XP_011514016.1:p.Leu3332Val
XM_011515716.1:c.9913T>G (AKAP9) XP_011514018.1:p.Leu3305Val
XM_011515717.1:c.9868T>G (AKAP9) XP_011514019.1:p.Leu3290Val
XM_011515718.1:c.9898T>G (AKAP9) XP_011514020.1:p.Leu3300Val
XM_011515719.1:c.9874T>G (AKAP9) XP_011514021.1:p.Leu3292Val
XM_011515721.1:c.4522T>G (AKAP9) XP_011514023.1:p.Leu1508Val
XM_011515722.1:c.4483T>G (AKAP9) XP_011514024.1:p.Leu1495Val
XM_017011642.2:c.9997T>G (AKAP9) XP_016867131.1:p.Leu3333Val
XM_017011643.2:c.9958T>G (AKAP9) XP_016867132.1:p.Leu3320Val
XM_017011644.2:c.9997T>G (AKAP9) XP_016867133.1:p.Leu3333Val
XM_017011645.2:c.9943T>G (AKAP9) XP_016867134.1:p.Leu3315Val
XM_017011646.2:c.9958T>G (AKAP9) XP_016867135.1:p.Leu3320Val
XM_017011647.2:c.9904T>G (AKAP9) XP_016867136.1:p.Leu3302Val
XM_017011648.2:c.9901T>G (AKAP9) XP_016867137.1:p.Leu3301Val
XM_017011649.2:c.9934T>G (AKAP9) XP_016867138.1:p.Leu3312Val
XM_017011650.2:c.9862T>G (AKAP9) XP_016867139.1:p.Leu3288Val
XM_017011651.2:c.9856T>G (AKAP9) XP_016867140.1:p.Leu3286Val
XM_017011652.2:c.9808T>G (AKAP9) XP_016867141.1:p.Leu3270Val
XM_017011653.2:c.9769T>G (AKAP9) XP_016867142.1:p.Leu3257Val
XM_017011654.2:c.9721T>G (AKAP9) XP_016867143.1:p.Leu3241Val
XM_017011655.2:c.9625T>G (AKAP9) XP_016867144.1:p.Leu3209Val
XM_017011656.2:c.9625T>G (AKAP9) XP_016867145.1:p.Leu3209Val
XM_017011657.2:c.5662T>G (AKAP9) XP_016867146.1:p.Leu1888Val
XM_017011658.2:c.4546T>G (AKAP9) XP_016867147.1:p.Leu1516Val
XM_017011659.2:c.4507T>G (AKAP9) XP_016867148.1:p.Leu1503Val
XM_017011660.2:c.4507T>G (AKAP9) XP_016867149.1:p.Leu1503Val
XM_024446631.1:c.9760T>G (AKAP9) XP_024302399.1:p.Leu3254Val