Canonical Allele Identifier: CA4337918
Community Standard Title: NM_005751.5(AKAP9):c.10291C>T (p.Leu3431Phe)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92097250C>T , CM000669.2:g.92097250C>T GRCh38
NC_000007.13:g.91726564C>T , CM000669.1:g.91726564C>T GRCh37
NC_000007.12:g.91564500C>T NCBI36
NG_011623.1:g.161376C>T , LRG_331:g.161376C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.10291C>T (AKAP9) MANE Select NP_005742.4:p.Leu3431Phe
ENST00000356239.8:c.10291C>T (AKAP9) MANE Select ENSP00000348573.3:p.Leu3431Phe
NM_001379277.1:c.4936C>T (AKAP9) NP_001366206.1:p.Leu1646Phe
NM_005751.4:c.10291C>T , LRG_331t1:c.10291C>T (AKAP9) NP_005742.4:p.Leu3431Phe
NM_147185.2:c.10267C>T (AKAP9) NP_671714.1:p.Leu3423Phe
NM_147185.3:c.10267C>T (AKAP9) NP_671714.1:p.Leu3423Phe
ENST00000356239.7:c.10291C>T (AKAP9) ENSP00000348573.3:p.Leu3431Phe
ENST00000359028.6:c.10300C>T (AKAP9) ENSP00000351922.3:p.Leu3434Phe
ENST00000359028.7:c.10363C>T (AKAP9) ENSP00000351922.4:p.Leu3455Phe
ENST00000394534.6:c.3829C>T (AKAP9) ENSP00000378042.2:p.Leu1277Phe
ENST00000394534.7:c.3391-336C>T (AKAP9) ENSP00000378042.3:n.3391-336C>T
ENST00000487258.5:n.2041C>T (AKAP9)
ENST00000487692.1:n.91C>T (AKAP9)
ENST00000487692.2:n.2369C>T (AKAP9)
ENST00000491695.2:c.4936C>T (AKAP9) ENSP00000494626.2:p.Leu1646Phe
ENST00000679448.1:c.*1171C>T (AKAP9) ENSP00000505889.1:n.*1171C>T
ENST00000679457.1:c.10267C>T (AKAP9) ENSP00000505450.1:p.Leu3423Phe
ENST00000679474.1:n.10489C>T (AKAP9)
ENST00000679521.1:c.10237C>T (AKAP9) ENSP00000505456.1:p.Leu3413Phe
ENST00000679821.1:c.10033C>T (AKAP9) ENSP00000506040.1:p.Leu3345Phe
ENST00000680047.1:n.10489C>T (AKAP9)
ENST00000680072.1:c.10114C>T (AKAP9) ENSP00000506581.1:p.Leu3372Phe
ENST00000680181.1:c.10198C>T (AKAP9) ENSP00000505548.1:p.Leu3400Phe
ENST00000680365.1:c.3930C>T (AKAP9) ENSP00000506019.1:n.3930C>T
ENST00000680513.1:c.10150C>T (AKAP9) ENSP00000505284.1:p.Leu3384Phe
ENST00000680534.1:c.10330C>T (AKAP9) ENSP00000506674.1:p.Leu3444Phe
ENST00000680766.1:c.10267C>T (AKAP9) ENSP00000505204.1:p.Leu3423Phe
ENST00000680952.1:c.10267C>T (AKAP9) ENSP00000506407.1:p.Leu3423Phe
ENST00000681216.1:c.4051C>T (AKAP9) ENSP00000505551.1:n.4051C>T
ENST00000681412.1:c.10291C>T (AKAP9) ENSP00000506486.1:p.Leu3431Phe
ENST00000681722.1:c.10267C>T (AKAP9) ENSP00000506566.1:p.Leu3423Phe
ENST00000691309.1:c.1352-11648G>A (CYP51A1) ENSP00000510368.1:n.1352-11648G>A
XM_006715827.1:c.10150C>T (AKAP9) XP_006715890.1:p.Leu3384Phe
XM_011515709.1:c.10438C>T (AKAP9) XP_011514011.1:p.Leu3480Phe
XM_011515710.1:c.10462C>T (AKAP9) XP_011514012.1:p.Leu3488Phe
XM_011515711.1:c.10402C>T (AKAP9) XP_011514013.1:p.Leu3468Phe
XM_011515712.1:c.10399C>T (AKAP9) XP_011514014.1:p.Leu3467Phe
XM_011515713.1:c.10384C>T (AKAP9) XP_011514015.1:p.Leu3462Phe
XM_011515714.1:c.10423C>T (AKAP9) XP_011514016.1:p.Leu3475Phe
XM_011515716.1:c.10342C>T (AKAP9) XP_011514018.1:p.Leu3448Phe
XM_011515717.1:c.10297C>T (AKAP9) XP_011514019.1:p.Leu3433Phe
XM_011515718.1:c.10327C>T (AKAP9) XP_011514020.1:p.Leu3443Phe
XM_011515719.1:c.10303C>T (AKAP9) XP_011514021.1:p.Leu3435Phe
XM_011515721.1:c.4951C>T (AKAP9) XP_011514023.1:p.Leu1651Phe
XM_011515722.1:c.4912C>T (AKAP9) XP_011514024.1:p.Leu1638Phe
XM_017011642.2:c.10426C>T (AKAP9) XP_016867131.1:p.Leu3476Phe
XM_017011643.2:c.10387C>T (AKAP9) XP_016867132.1:p.Leu3463Phe
XM_017011644.2:c.10426C>T (AKAP9) XP_016867133.1:p.Leu3476Phe
XM_017011645.2:c.10372C>T (AKAP9) XP_016867134.1:p.Leu3458Phe
XM_017011646.2:c.10387C>T (AKAP9) XP_016867135.1:p.Leu3463Phe
XM_017011647.2:c.10333C>T (AKAP9) XP_016867136.1:p.Leu3445Phe
XM_017011648.2:c.10330C>T (AKAP9) XP_016867137.1:p.Leu3444Phe
XM_017011649.2:c.10363C>T (AKAP9) XP_016867138.1:p.Leu3455Phe
XM_017011650.2:c.10291C>T (AKAP9) XP_016867139.1:p.Leu3431Phe
XM_017011651.2:c.10285C>T (AKAP9) XP_016867140.1:p.Leu3429Phe
XM_017011652.2:c.10237C>T (AKAP9) XP_016867141.1:p.Leu3413Phe
XM_017011653.2:c.10198C>T (AKAP9) XP_016867142.1:p.Leu3400Phe
XM_017011654.2:c.10150C>T (AKAP9) XP_016867143.1:p.Leu3384Phe
XM_017011655.2:c.10054C>T (AKAP9) XP_016867144.1:p.Leu3352Phe
XM_017011656.2:c.10054C>T (AKAP9) XP_016867145.1:p.Leu3352Phe
XM_017011657.2:c.6091C>T (AKAP9) XP_016867146.1:p.Leu2031Phe
XM_017011658.2:c.4975C>T (AKAP9) XP_016867147.1:p.Leu1659Phe
XM_017011659.2:c.4936C>T (AKAP9) XP_016867148.1:p.Leu1646Phe
XM_017011660.2:c.4936C>T (AKAP9) XP_016867149.1:p.Leu1646Phe
XM_024446631.1:c.10189C>T (AKAP9) XP_024302399.1:p.Leu3397Phe