Canonical Allele Identifier: CA456454188
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.91729099A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92099785A>G , CM000669.2:g.92099785A>G GRCh38
NC_000007.13:g.91729099A>G , CM000669.1:g.91729099A>G GRCh37
NC_000007.12:g.91567035A>G NCBI36
NG_011623.1:g.163911A>G , LRG_331:g.163911A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691309.1:c.1352-14183T>C (CYP51A1) ENSP00000510368.1:n.1352-14183T>C
ENST00000356239.8:c.10812A>G (AKAP9) MANE Select ENSP00000348573.3:p.Glu3604=
ENST00000359028.7:c.10884A>G (AKAP9) ENSP00000351922.4:p.Glu3628=
ENST00000394534.7:c.3804A>G (AKAP9) ENSP00000378042.3:p.Glu1268=
ENST00000463118.2:n.160A>G (AKAP9)
ENST00000486313.2:c.300A>G (AKAP9) ENSP00000505389.1:p.Glu100=
ENST00000487692.2:n.2890A>G (AKAP9)
ENST00000491695.2:c.5457A>G (AKAP9) ENSP00000494626.2:p.Glu1819=
ENST00000679448.1:c.*1692A>G (AKAP9) ENSP00000505889.1:n.*1692A>G
ENST00000679457.1:c.10788A>G (AKAP9) ENSP00000505450.1:p.Glu3596=
ENST00000679474.1:n.11010A>G (AKAP9)
ENST00000679521.1:c.10758A>G (AKAP9) ENSP00000505456.1:p.Glu3586=
ENST00000679821.1:c.10554A>G (AKAP9) ENSP00000506040.1:p.Glu3518=
ENST00000680047.1:n.12482A>G (AKAP9)
ENST00000680072.1:c.10635A>G (AKAP9) ENSP00000506581.1:p.Glu3545=
ENST00000680181.1:c.10719A>G (AKAP9) ENSP00000505548.1:p.Glu3573=
ENST00000680365.1:c.4451A>G (AKAP9) ENSP00000506019.1:n.4451A>G
ENST00000680513.1:c.10671A>G (AKAP9) ENSP00000505284.1:p.Glu3557=
ENST00000680534.1:c.10851A>G (AKAP9) ENSP00000506674.1:p.Glu3617=
ENST00000680766.1:c.10788A>G (AKAP9) ENSP00000505204.1:p.Glu3596=
ENST00000680952.1:c.10788A>G (AKAP9) ENSP00000506407.1:p.Glu3596=
ENST00000681216.1:c.4572A>G (AKAP9) ENSP00000505551.1:n.4572A>G
ENST00000681412.1:c.10812A>G (AKAP9) ENSP00000506486.1:p.Glu3604=
ENST00000681722.1:c.10788A>G (AKAP9) ENSP00000506566.1:p.Glu3596=
ENST00000356239.7:c.10812A>G (AKAP9) ENSP00000348573.3:p.Glu3604=
ENST00000359028.6:c.10821A>G (AKAP9) ENSP00000351922.3:p.Glu3607=
ENST00000394534.6:c.4350A>G (AKAP9) ENSP00000378042.2:p.Glu1450=
ENST00000463118.1:n.160A>G (AKAP9)
ENST00000487258.5:n.2562A>G (AKAP9)
ENST00000487692.1:n.612A>G (AKAP9)
NM_005751.4:c.10812A>G , LRG_331t1:c.10812A>G (AKAP9) NP_005742.4:p.Glu3604=
NM_147185.2:c.10788A>G (AKAP9) NP_671714.1:p.Glu3596=
XM_006715827.1:c.10671A>G (AKAP9) XP_006715890.1:p.Glu3557=
XM_011515709.1:c.10959A>G (AKAP9) XP_011514011.1:p.Glu3653=
XM_011515710.1:c.10983A>G (AKAP9) XP_011514012.1:p.Glu3661=
XM_011515711.1:c.10923A>G (AKAP9) XP_011514013.1:p.Glu3641=
XM_011515712.1:c.10920A>G (AKAP9) XP_011514014.1:p.Glu3640=
XM_011515713.1:c.10905A>G (AKAP9) XP_011514015.1:p.Glu3635=
XM_011515714.1:c.10944A>G (AKAP9) XP_011514016.1:p.Glu3648=
XM_011515716.1:c.10863A>G (AKAP9) XP_011514018.1:p.Glu3621=
XM_011515717.1:c.10818A>G (AKAP9) XP_011514019.1:p.Glu3606=
XM_011515718.1:c.10848A>G (AKAP9) XP_011514020.1:p.Glu3616=
XM_011515719.1:c.10824A>G (AKAP9) XP_011514021.1:p.Glu3608=
XM_011515721.1:c.5472A>G (AKAP9) XP_011514023.1:p.Glu1824=
XM_011515722.1:c.5433A>G (AKAP9) XP_011514024.1:p.Glu1811=
XM_017011642.2:c.10947A>G (AKAP9) XP_016867131.1:p.Glu3649=
XM_017011643.2:c.10908A>G (AKAP9) XP_016867132.1:p.Glu3636=
XM_017011644.2:c.10947A>G (AKAP9) XP_016867133.1:p.Glu3649=
XM_017011645.2:c.10893A>G (AKAP9) XP_016867134.1:p.Glu3631=
XM_017011646.2:c.10908A>G (AKAP9) XP_016867135.1:p.Glu3636=
XM_017011647.2:c.10854A>G (AKAP9) XP_016867136.1:p.Glu3618=
XM_017011648.2:c.10851A>G (AKAP9) XP_016867137.1:p.Glu3617=
XM_017011649.2:c.10884A>G (AKAP9) XP_016867138.1:p.Glu3628=
XM_017011650.2:c.10812A>G (AKAP9) XP_016867139.1:p.Glu3604=
XM_017011651.2:c.10806A>G (AKAP9) XP_016867140.1:p.Glu3602=
XM_017011652.2:c.10758A>G (AKAP9) XP_016867141.1:p.Glu3586=
XM_017011653.2:c.10719A>G (AKAP9) XP_016867142.1:p.Glu3573=
XM_017011654.2:c.10671A>G (AKAP9) XP_016867143.1:p.Glu3557=
XM_017011655.2:c.10575A>G (AKAP9) XP_016867144.1:p.Glu3525=
XM_017011656.2:c.10575A>G (AKAP9) XP_016867145.1:p.Glu3525=
XM_017011657.2:c.6612A>G (AKAP9) XP_016867146.1:p.Glu2204=
XM_017011658.2:c.5496A>G (AKAP9) XP_016867147.1:p.Glu1832=
XM_017011659.2:c.5457A>G (AKAP9) XP_016867148.1:p.Glu1819=
XM_017011660.2:c.5457A>G (AKAP9) XP_016867149.1:p.Glu1819=
XM_024446631.1:c.10710A>G (AKAP9) XP_024302399.1:p.Glu3570=
NM_147185.3:c.10788A>G (AKAP9) NP_671714.1:p.Glu3596=
NM_001379277.1:c.5457A>G (AKAP9) NP_001366206.1:p.Glu1819=
NM_005751.5:c.10812A>G (AKAP9) MANE Select NP_005742.4:p.Glu3604=