Canonical Allele Identifier: CA4338015
Community Standard Title: NM_005751.5(AKAP9):c.10714-3C>T
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92099684C>T , CM000669.2:g.92099684C>T GRCh38
NC_000007.13:g.91728998C>T , CM000669.1:g.91728998C>T GRCh37
NC_000007.12:g.91566934C>T NCBI36
NG_011623.1:g.163810C>T , LRG_331:g.163810C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.10714-3C>T (AKAP9) MANE Select NP_005742.4:n.10714-3C>T
ENST00000356239.8:c.10714-3C>T (AKAP9) MANE Select ENSP00000348573.3:n.10714-3C>T
NM_001379277.1:c.5359-3C>T (AKAP9) NP_001366206.1:n.5359-3C>T
NM_005751.4:c.10714-3C>T , LRG_331t1:c.10714-3C>T (AKAP9) NP_005742.4:n.10714-3C>T
NM_147185.2:c.10690-3C>T (AKAP9) NP_671714.1:n.10690-3C>T
NM_147185.3:c.10690-3C>T (AKAP9) NP_671714.1:n.10690-3C>T
ENST00000356239.7:c.10714-3C>T (AKAP9) ENSP00000348573.3:n.10714-3C>T
ENST00000359028.6:c.10723-3C>T (AKAP9) ENSP00000351922.3:n.10723-3C>T
ENST00000359028.7:c.10786-3C>T (AKAP9) ENSP00000351922.4:n.10786-3C>T
ENST00000394534.6:c.4252-3C>T (AKAP9) ENSP00000378042.2:n.4252-3C>T
ENST00000394534.7:c.3706-3C>T (AKAP9) ENSP00000378042.3:n.3706-3C>T
ENST00000463118.1:n.62-3C>T (AKAP9)
ENST00000463118.2:n.62-3C>T (AKAP9)
ENST00000486313.2:c.202-3C>T (AKAP9) ENSP00000505389.1:n.202-3C>T
ENST00000487258.5:n.2464-3C>T (AKAP9)
ENST00000487692.1:n.514-3C>T (AKAP9)
ENST00000487692.2:n.2792-3C>T (AKAP9)
ENST00000491695.2:c.5359-3C>T (AKAP9) ENSP00000494626.2:n.5359-3C>T
ENST00000679448.1:c.*1594-3C>T (AKAP9) ENSP00000505889.1:n.*1594-3C>T
ENST00000679457.1:c.10690-3C>T (AKAP9) ENSP00000505450.1:n.10690-3C>T
ENST00000679474.1:n.10912-3C>T (AKAP9)
ENST00000679521.1:c.10660-3C>T (AKAP9) ENSP00000505456.1:n.10660-3C>T
ENST00000679821.1:c.10456-3C>T (AKAP9) ENSP00000506040.1:n.10456-3C>T
ENST00000680047.1:n.12381C>T (AKAP9)
ENST00000680072.1:c.10537-3C>T (AKAP9) ENSP00000506581.1:n.10537-3C>T
ENST00000680181.1:c.10621-3C>T (AKAP9) ENSP00000505548.1:n.10621-3C>T
ENST00000680365.1:c.4353-3C>T (AKAP9) ENSP00000506019.1:n.4353-3C>T
ENST00000680513.1:c.10573-3C>T (AKAP9) ENSP00000505284.1:n.10573-3C>T
ENST00000680534.1:c.10753-3C>T (AKAP9) ENSP00000506674.1:n.10753-3C>T
ENST00000680766.1:c.10690-3C>T (AKAP9) ENSP00000505204.1:n.10690-3C>T
ENST00000680952.1:c.10690-3C>T (AKAP9) ENSP00000506407.1:n.10690-3C>T
ENST00000681216.1:c.4474-3C>T (AKAP9) ENSP00000505551.1:n.4474-3C>T
ENST00000681412.1:c.10714-3C>T (AKAP9) ENSP00000506486.1:n.10714-3C>T
ENST00000681722.1:c.10690-3C>T (AKAP9) ENSP00000506566.1:n.10690-3C>T
ENST00000691309.1:c.1352-14082G>A (CYP51A1) ENSP00000510368.1:n.1352-14082G>A
XM_006715827.1:c.10573-3C>T (AKAP9) XP_006715890.1:n.10573-3C>T
XM_011515709.1:c.10861-3C>T (AKAP9) XP_011514011.1:n.10861-3C>T
XM_011515710.1:c.10885-3C>T (AKAP9) XP_011514012.1:n.10885-3C>T
XM_011515711.1:c.10825-3C>T (AKAP9) XP_011514013.1:n.10825-3C>T
XM_011515712.1:c.10822-3C>T (AKAP9) XP_011514014.1:n.10822-3C>T
XM_011515713.1:c.10807-3C>T (AKAP9) XP_011514015.1:n.10807-3C>T
XM_011515714.1:c.10846-3C>T (AKAP9) XP_011514016.1:n.10846-3C>T
XM_011515716.1:c.10765-3C>T (AKAP9) XP_011514018.1:n.10765-3C>T
XM_011515717.1:c.10720-3C>T (AKAP9) XP_011514019.1:n.10720-3C>T
XM_011515718.1:c.10750-3C>T (AKAP9) XP_011514020.1:n.10750-3C>T
XM_011515719.1:c.10726-3C>T (AKAP9) XP_011514021.1:n.10726-3C>T
XM_011515721.1:c.5374-3C>T (AKAP9) XP_011514023.1:n.5374-3C>T
XM_011515722.1:c.5335-3C>T (AKAP9) XP_011514024.1:n.5335-3C>T
XM_017011642.2:c.10849-3C>T (AKAP9) XP_016867131.1:n.10849-3C>T
XM_017011643.2:c.10810-3C>T (AKAP9) XP_016867132.1:n.10810-3C>T
XM_017011644.2:c.10849-3C>T (AKAP9) XP_016867133.1:n.10849-3C>T
XM_017011645.2:c.10795-3C>T (AKAP9) XP_016867134.1:n.10795-3C>T
XM_017011646.2:c.10810-3C>T (AKAP9) XP_016867135.1:n.10810-3C>T
XM_017011647.2:c.10756-3C>T (AKAP9) XP_016867136.1:n.10756-3C>T
XM_017011648.2:c.10753-3C>T (AKAP9) XP_016867137.1:n.10753-3C>T
XM_017011649.2:c.10786-3C>T (AKAP9) XP_016867138.1:n.10786-3C>T
XM_017011650.2:c.10714-3C>T (AKAP9) XP_016867139.1:n.10714-3C>T
XM_017011651.2:c.10708-3C>T (AKAP9) XP_016867140.1:n.10708-3C>T
XM_017011652.2:c.10660-3C>T (AKAP9) XP_016867141.1:n.10660-3C>T
XM_017011653.2:c.10621-3C>T (AKAP9) XP_016867142.1:n.10621-3C>T
XM_017011654.2:c.10573-3C>T (AKAP9) XP_016867143.1:n.10573-3C>T
XM_017011655.2:c.10477-3C>T (AKAP9) XP_016867144.1:n.10477-3C>T
XM_017011656.2:c.10477-3C>T (AKAP9) XP_016867145.1:n.10477-3C>T
XM_017011657.2:c.6514-3C>T (AKAP9) XP_016867146.1:n.6514-3C>T
XM_017011658.2:c.5398-3C>T (AKAP9) XP_016867147.1:n.5398-3C>T
XM_017011659.2:c.5359-3C>T (AKAP9) XP_016867148.1:n.5359-3C>T
XM_017011660.2:c.5359-3C>T (AKAP9) XP_016867149.1:n.5359-3C>T
XM_024446631.1:c.10612-3C>T (AKAP9) XP_024302399.1:n.10612-3C>T