Canonical Allele Identifier: CA337953
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92097156T>C , CM000669.2:g.92097156T>C GRCh38
NC_000007.13:g.91726470T>C , CM000669.1:g.91726470T>C GRCh37
NC_000007.12:g.91564406T>C NCBI36
NG_011623.1:g.161282T>C , LRG_331:g.161282T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691309.1:c.1352-11554A>G (CYP51A1) ENSP00000510368.1:n.1352-11554A>G
ENST00000356239.8:c.10197T>C (AKAP9) MANE Select ENSP00000348573.3:p.Thr3399=
ENST00000359028.7:c.10269T>C (AKAP9) ENSP00000351922.4:p.Thr3423=
ENST00000394534.7:c.3390+300T>C (AKAP9) ENSP00000378042.3:n.3390+300T>C
ENST00000487692.2:n.2275T>C (AKAP9)
ENST00000491695.2:c.4842T>C (AKAP9) ENSP00000494626.2:p.Thr1614=
ENST00000679448.1:c.*1077T>C (AKAP9) ENSP00000505889.1:n.*1077T>C
ENST00000679457.1:c.10173T>C (AKAP9) ENSP00000505450.1:p.Thr3391=
ENST00000679474.1:n.10395T>C (AKAP9)
ENST00000679521.1:c.10143T>C (AKAP9) ENSP00000505456.1:p.Thr3381=
ENST00000679821.1:c.9939T>C (AKAP9) ENSP00000506040.1:p.Thr3313=
ENST00000680047.1:n.10395T>C (AKAP9)
ENST00000680072.1:c.10020T>C (AKAP9) ENSP00000506581.1:p.Thr3340=
ENST00000680181.1:c.10104T>C (AKAP9) ENSP00000505548.1:p.Thr3368=
ENST00000680365.1:c.3836T>C (AKAP9) ENSP00000506019.1:n.3836T>C
ENST00000680513.1:c.10056T>C (AKAP9) ENSP00000505284.1:p.Thr3352=
ENST00000680534.1:c.10236T>C (AKAP9) ENSP00000506674.1:p.Thr3412=
ENST00000680766.1:c.10173T>C (AKAP9) ENSP00000505204.1:p.Thr3391=
ENST00000680952.1:c.10173T>C (AKAP9) ENSP00000506407.1:p.Thr3391=
ENST00000681216.1:c.3957T>C (AKAP9) ENSP00000505551.1:n.3957T>C
ENST00000681412.1:c.10197T>C (AKAP9) ENSP00000506486.1:p.Thr3399=
ENST00000681722.1:c.10173T>C (AKAP9) ENSP00000506566.1:p.Thr3391=
ENST00000356239.7:c.10197T>C (AKAP9) ENSP00000348573.3:p.Thr3399=
ENST00000359028.6:c.10206T>C (AKAP9) ENSP00000351922.3:p.Thr3402=
ENST00000394534.6:c.3735T>C (AKAP9) ENSP00000378042.2:p.Thr1245=
ENST00000487258.5:n.1947T>C (AKAP9)
NM_005751.4:c.10197T>C , LRG_331t1:c.10197T>C (AKAP9) NP_005742.4:p.Thr3399=
NM_147185.2:c.10173T>C (AKAP9) NP_671714.1:p.Thr3391=
XM_006715827.1:c.10056T>C (AKAP9) XP_006715890.1:p.Thr3352=
XM_011515709.1:c.10344T>C (AKAP9) XP_011514011.1:p.Thr3448=
XM_011515710.1:c.10368T>C (AKAP9) XP_011514012.1:p.Thr3456=
XM_011515711.1:c.10308T>C (AKAP9) XP_011514013.1:p.Thr3436=
XM_011515712.1:c.10305T>C (AKAP9) XP_011514014.1:p.Thr3435=
XM_011515713.1:c.10290T>C (AKAP9) XP_011514015.1:p.Thr3430=
XM_011515714.1:c.10329T>C (AKAP9) XP_011514016.1:p.Thr3443=
XM_011515716.1:c.10248T>C (AKAP9) XP_011514018.1:p.Thr3416=
XM_011515717.1:c.10203T>C (AKAP9) XP_011514019.1:p.Thr3401=
XM_011515718.1:c.10233T>C (AKAP9) XP_011514020.1:p.Thr3411=
XM_011515719.1:c.10209T>C (AKAP9) XP_011514021.1:p.Thr3403=
XM_011515721.1:c.4857T>C (AKAP9) XP_011514023.1:p.Thr1619=
XM_011515722.1:c.4818T>C (AKAP9) XP_011514024.1:p.Thr1606=
XM_017011642.2:c.10332T>C (AKAP9) XP_016867131.1:p.Thr3444=
XM_017011643.2:c.10293T>C (AKAP9) XP_016867132.1:p.Thr3431=
XM_017011644.2:c.10332T>C (AKAP9) XP_016867133.1:p.Thr3444=
XM_017011645.2:c.10278T>C (AKAP9) XP_016867134.1:p.Thr3426=
XM_017011646.2:c.10293T>C (AKAP9) XP_016867135.1:p.Thr3431=
XM_017011647.2:c.10239T>C (AKAP9) XP_016867136.1:p.Thr3413=
XM_017011648.2:c.10236T>C (AKAP9) XP_016867137.1:p.Thr3412=
XM_017011649.2:c.10269T>C (AKAP9) XP_016867138.1:p.Thr3423=
XM_017011650.2:c.10197T>C (AKAP9) XP_016867139.1:p.Thr3399=
XM_017011651.2:c.10191T>C (AKAP9) XP_016867140.1:p.Thr3397=
XM_017011652.2:c.10143T>C (AKAP9) XP_016867141.1:p.Thr3381=
XM_017011653.2:c.10104T>C (AKAP9) XP_016867142.1:p.Thr3368=
XM_017011654.2:c.10056T>C (AKAP9) XP_016867143.1:p.Thr3352=
XM_017011655.2:c.9960T>C (AKAP9) XP_016867144.1:p.Thr3320=
XM_017011656.2:c.9960T>C (AKAP9) XP_016867145.1:p.Thr3320=
XM_017011657.2:c.5997T>C (AKAP9) XP_016867146.1:p.Thr1999=
XM_017011658.2:c.4881T>C (AKAP9) XP_016867147.1:p.Thr1627=
XM_017011659.2:c.4842T>C (AKAP9) XP_016867148.1:p.Thr1614=
XM_017011660.2:c.4842T>C (AKAP9) XP_016867149.1:p.Thr1614=
XM_024446631.1:c.10095T>C (AKAP9) XP_024302399.1:p.Thr3365=
NM_147185.3:c.10173T>C (AKAP9) NP_671714.1:p.Thr3391=
NM_001379277.1:c.4842T>C (AKAP9) NP_001366206.1:p.Thr1614=
NM_005751.5:c.10197T>C (AKAP9) MANE Select NP_005742.4:p.Thr3399=