Canonical Allele Identifier: CA163160
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 136345
dbSNP Id: rs34327395
gnomAD v2: 7-91729127-A-G
gnomAD v3: 7-92099813-A-G
gnomAD v4: 7-92099813-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92099813A>G , CM000669.2:g.92099813A>G GRCh38
NC_000007.13:g.91729127A>G , CM000669.1:g.91729127A>G GRCh37
NC_000007.12:g.91567063A>G NCBI36
NG_011623.1:g.163939A>G , LRG_331:g.163939A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691309.1:c.1352-14211T>C (CYP51A1) ENSP00000510368.1:n.1352-14211T>C
ENST00000356239.8:c.10840A>G (AKAP9) MANE Select ENSP00000348573.3:p.Met3614Val
ENST00000359028.7:c.10912A>G (AKAP9) ENSP00000351922.4:p.Met3638Val
ENST00000394534.7:c.3832A>G (AKAP9) ENSP00000378042.3:p.Met1278Val
ENST00000463118.2:n.188A>G (AKAP9)
ENST00000486313.2:c.328A>G (AKAP9) ENSP00000505389.1:p.Met110Val
ENST00000487692.2:n.2918A>G (AKAP9)
ENST00000491695.2:c.5485A>G (AKAP9) ENSP00000494626.2:p.Met1829Val
ENST00000679448.1:c.*1720A>G (AKAP9) ENSP00000505889.1:n.*1720A>G
ENST00000679457.1:c.10816A>G (AKAP9) ENSP00000505450.1:p.Met3606Val
ENST00000679474.1:n.11038A>G (AKAP9)
ENST00000679521.1:c.10786A>G (AKAP9) ENSP00000505456.1:p.Met3596Val
ENST00000679821.1:c.10582A>G (AKAP9) ENSP00000506040.1:p.Met3528Val
ENST00000680047.1:n.12510A>G (AKAP9)
ENST00000680072.1:c.10663A>G (AKAP9) ENSP00000506581.1:p.Met3555Val
ENST00000680181.1:c.10747A>G (AKAP9) ENSP00000505548.1:p.Met3583Val
ENST00000680365.1:c.4479A>G (AKAP9) ENSP00000506019.1:n.4479A>G
ENST00000680513.1:c.10699A>G (AKAP9) ENSP00000505284.1:p.Met3567Val
ENST00000680534.1:c.10879A>G (AKAP9) ENSP00000506674.1:p.Met3627Val
ENST00000680766.1:c.10816A>G (AKAP9) ENSP00000505204.1:p.Met3606Val
ENST00000680952.1:c.10816A>G (AKAP9) ENSP00000506407.1:p.Met3606Val
ENST00000681216.1:c.4600A>G (AKAP9) ENSP00000505551.1:n.4600A>G
ENST00000681412.1:c.10840A>G (AKAP9) ENSP00000506486.1:p.Met3614Val
ENST00000681722.1:c.10816A>G (AKAP9) ENSP00000506566.1:p.Met3606Val
ENST00000356239.7:c.10840A>G (AKAP9) ENSP00000348573.3:p.Met3614Val
ENST00000359028.6:c.10849A>G (AKAP9) ENSP00000351922.3:p.Met3617Val
ENST00000394534.6:c.4378A>G (AKAP9) ENSP00000378042.2:p.Met1460Val
ENST00000463118.1:n.188A>G (AKAP9)
ENST00000487258.5:n.2590A>G (AKAP9)
ENST00000487692.1:n.640A>G (AKAP9)
NM_005751.4:c.10840A>G , LRG_331t1:c.10840A>G (AKAP9) NP_005742.4:p.Met3614Val
NM_147185.2:c.10816A>G (AKAP9) NP_671714.1:p.Met3606Val
XM_006715827.1:c.10699A>G (AKAP9) XP_006715890.1:p.Met3567Val
XM_011515709.1:c.10987A>G (AKAP9) XP_011514011.1:p.Met3663Val
XM_011515710.1:c.11011A>G (AKAP9) XP_011514012.1:p.Met3671Val
XM_011515711.1:c.10951A>G (AKAP9) XP_011514013.1:p.Met3651Val
XM_011515712.1:c.10948A>G (AKAP9) XP_011514014.1:p.Met3650Val
XM_011515713.1:c.10933A>G (AKAP9) XP_011514015.1:p.Met3645Val
XM_011515714.1:c.10972A>G (AKAP9) XP_011514016.1:p.Met3658Val
XM_011515716.1:c.10891A>G (AKAP9) XP_011514018.1:p.Met3631Val
XM_011515717.1:c.10846A>G (AKAP9) XP_011514019.1:p.Met3616Val
XM_011515718.1:c.10876A>G (AKAP9) XP_011514020.1:p.Met3626Val
XM_011515719.1:c.10852A>G (AKAP9) XP_011514021.1:p.Met3618Val
XM_011515721.1:c.5500A>G (AKAP9) XP_011514023.1:p.Met1834Val
XM_011515722.1:c.5461A>G (AKAP9) XP_011514024.1:p.Met1821Val
XM_017011642.2:c.10975A>G (AKAP9) XP_016867131.1:p.Met3659Val
XM_017011643.2:c.10936A>G (AKAP9) XP_016867132.1:p.Met3646Val
XM_017011644.2:c.10975A>G (AKAP9) XP_016867133.1:p.Met3659Val
XM_017011645.2:c.10921A>G (AKAP9) XP_016867134.1:p.Met3641Val
XM_017011646.2:c.10936A>G (AKAP9) XP_016867135.1:p.Met3646Val
XM_017011647.2:c.10882A>G (AKAP9) XP_016867136.1:p.Met3628Val
XM_017011648.2:c.10879A>G (AKAP9) XP_016867137.1:p.Met3627Val
XM_017011649.2:c.10912A>G (AKAP9) XP_016867138.1:p.Met3638Val
XM_017011650.2:c.10840A>G (AKAP9) XP_016867139.1:p.Met3614Val
XM_017011651.2:c.10834A>G (AKAP9) XP_016867140.1:p.Met3612Val
XM_017011652.2:c.10786A>G (AKAP9) XP_016867141.1:p.Met3596Val
XM_017011653.2:c.10747A>G (AKAP9) XP_016867142.1:p.Met3583Val
XM_017011654.2:c.10699A>G (AKAP9) XP_016867143.1:p.Met3567Val
XM_017011655.2:c.10603A>G (AKAP9) XP_016867144.1:p.Met3535Val
XM_017011656.2:c.10603A>G (AKAP9) XP_016867145.1:p.Met3535Val
XM_017011657.2:c.6640A>G (AKAP9) XP_016867146.1:p.Met2214Val
XM_017011658.2:c.5524A>G (AKAP9) XP_016867147.1:p.Met1842Val
XM_017011659.2:c.5485A>G (AKAP9) XP_016867148.1:p.Met1829Val
XM_017011660.2:c.5485A>G (AKAP9) XP_016867149.1:p.Met1829Val
XM_024446631.1:c.10738A>G (AKAP9) XP_024302399.1:p.Met3580Val
NM_147185.3:c.10816A>G (AKAP9) NP_671714.1:p.Met3606Val
NM_001379277.1:c.5485A>G (AKAP9) NP_001366206.1:p.Met1829Val
NM_005751.5:c.10840A>G (AKAP9) MANE Select NP_005742.4:p.Met3614Val