Canonical Allele Identifier: CA4337925
Community Standard Title: NM_005751.5(AKAP9):c.10327T>C (p.Phe3443Leu)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92097286T>C , CM000669.2:g.92097286T>C GRCh38
NC_000007.13:g.91726600T>C , CM000669.1:g.91726600T>C GRCh37
NC_000007.12:g.91564536T>C NCBI36
NG_011623.1:g.161412T>C , LRG_331:g.161412T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.10327T>C (AKAP9) MANE Select NP_005742.4:p.Phe3443Leu
ENST00000356239.8:c.10327T>C (AKAP9) MANE Select ENSP00000348573.3:p.Phe3443Leu
NM_001379277.1:c.4972T>C (AKAP9) NP_001366206.1:p.Phe1658Leu
NM_005751.4:c.10327T>C , LRG_331t1:c.10327T>C (AKAP9) NP_005742.4:p.Phe3443Leu
NM_147185.2:c.10303T>C (AKAP9) NP_671714.1:p.Phe3435Leu
NM_147185.3:c.10303T>C (AKAP9) NP_671714.1:p.Phe3435Leu
ENST00000356239.7:c.10327T>C (AKAP9) ENSP00000348573.3:p.Phe3443Leu
ENST00000359028.6:c.10336T>C (AKAP9) ENSP00000351922.3:p.Phe3446Leu
ENST00000359028.7:c.10399T>C (AKAP9) ENSP00000351922.4:p.Phe3467Leu
ENST00000394534.6:c.3865T>C (AKAP9) ENSP00000378042.2:p.Phe1289Leu
ENST00000394534.7:c.3391-300T>C (AKAP9) ENSP00000378042.3:n.3391-300T>C
ENST00000487258.5:n.2077T>C (AKAP9)
ENST00000487692.1:n.127T>C (AKAP9)
ENST00000487692.2:n.2405T>C (AKAP9)
ENST00000491695.2:c.4972T>C (AKAP9) ENSP00000494626.2:p.Phe1658Leu
ENST00000679448.1:c.*1207T>C (AKAP9) ENSP00000505889.1:n.*1207T>C
ENST00000679457.1:c.10303T>C (AKAP9) ENSP00000505450.1:p.Phe3435Leu
ENST00000679474.1:n.10525T>C (AKAP9)
ENST00000679521.1:c.10273T>C (AKAP9) ENSP00000505456.1:p.Phe3425Leu
ENST00000679821.1:c.10069T>C (AKAP9) ENSP00000506040.1:p.Phe3357Leu
ENST00000680047.1:n.10525T>C (AKAP9)
ENST00000680072.1:c.10150T>C (AKAP9) ENSP00000506581.1:p.Phe3384Leu
ENST00000680181.1:c.10234T>C (AKAP9) ENSP00000505548.1:p.Phe3412Leu
ENST00000680365.1:c.3966T>C (AKAP9) ENSP00000506019.1:n.3966T>C
ENST00000680513.1:c.10186T>C (AKAP9) ENSP00000505284.1:p.Phe3396Leu
ENST00000680534.1:c.10366T>C (AKAP9) ENSP00000506674.1:p.Phe3456Leu
ENST00000680766.1:c.10303T>C (AKAP9) ENSP00000505204.1:p.Phe3435Leu
ENST00000680952.1:c.10303T>C (AKAP9) ENSP00000506407.1:p.Phe3435Leu
ENST00000681216.1:c.4087T>C (AKAP9) ENSP00000505551.1:n.4087T>C
ENST00000681412.1:c.10327T>C (AKAP9) ENSP00000506486.1:p.Phe3443Leu
ENST00000681722.1:c.10303T>C (AKAP9) ENSP00000506566.1:p.Phe3435Leu
ENST00000691309.1:c.1352-11684A>G (CYP51A1) ENSP00000510368.1:n.1352-11684A>G
XM_006715827.1:c.10186T>C (AKAP9) XP_006715890.1:p.Phe3396Leu
XM_011515709.1:c.10474T>C (AKAP9) XP_011514011.1:p.Phe3492Leu
XM_011515710.1:c.10498T>C (AKAP9) XP_011514012.1:p.Phe3500Leu
XM_011515711.1:c.10438T>C (AKAP9) XP_011514013.1:p.Phe3480Leu
XM_011515712.1:c.10435T>C (AKAP9) XP_011514014.1:p.Phe3479Leu
XM_011515713.1:c.10420T>C (AKAP9) XP_011514015.1:p.Phe3474Leu
XM_011515714.1:c.10459T>C (AKAP9) XP_011514016.1:p.Phe3487Leu
XM_011515716.1:c.10378T>C (AKAP9) XP_011514018.1:p.Phe3460Leu
XM_011515717.1:c.10333T>C (AKAP9) XP_011514019.1:p.Phe3445Leu
XM_011515718.1:c.10363T>C (AKAP9) XP_011514020.1:p.Phe3455Leu
XM_011515719.1:c.10339T>C (AKAP9) XP_011514021.1:p.Phe3447Leu
XM_011515721.1:c.4987T>C (AKAP9) XP_011514023.1:p.Phe1663Leu
XM_011515722.1:c.4948T>C (AKAP9) XP_011514024.1:p.Phe1650Leu
XM_017011642.2:c.10462T>C (AKAP9) XP_016867131.1:p.Phe3488Leu
XM_017011643.2:c.10423T>C (AKAP9) XP_016867132.1:p.Phe3475Leu
XM_017011644.2:c.10462T>C (AKAP9) XP_016867133.1:p.Phe3488Leu
XM_017011645.2:c.10408T>C (AKAP9) XP_016867134.1:p.Phe3470Leu
XM_017011646.2:c.10423T>C (AKAP9) XP_016867135.1:p.Phe3475Leu
XM_017011647.2:c.10369T>C (AKAP9) XP_016867136.1:p.Phe3457Leu
XM_017011648.2:c.10366T>C (AKAP9) XP_016867137.1:p.Phe3456Leu
XM_017011649.2:c.10399T>C (AKAP9) XP_016867138.1:p.Phe3467Leu
XM_017011650.2:c.10327T>C (AKAP9) XP_016867139.1:p.Phe3443Leu
XM_017011651.2:c.10321T>C (AKAP9) XP_016867140.1:p.Phe3441Leu
XM_017011652.2:c.10273T>C (AKAP9) XP_016867141.1:p.Phe3425Leu
XM_017011653.2:c.10234T>C (AKAP9) XP_016867142.1:p.Phe3412Leu
XM_017011654.2:c.10186T>C (AKAP9) XP_016867143.1:p.Phe3396Leu
XM_017011655.2:c.10090T>C (AKAP9) XP_016867144.1:p.Phe3364Leu
XM_017011656.2:c.10090T>C (AKAP9) XP_016867145.1:p.Phe3364Leu
XM_017011657.2:c.6127T>C (AKAP9) XP_016867146.1:p.Phe2043Leu
XM_017011658.2:c.5011T>C (AKAP9) XP_016867147.1:p.Phe1671Leu
XM_017011659.2:c.4972T>C (AKAP9) XP_016867148.1:p.Phe1658Leu
XM_017011660.2:c.4972T>C (AKAP9) XP_016867149.1:p.Phe1658Leu
XM_024446631.1:c.10225T>C (AKAP9) XP_024302399.1:p.Phe3409Leu