Canonical Allele Identifier: CA4337824
Community Standard Title: NM_005751.5(AKAP9):c.9709C>T (p.Arg3237Trp)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92095153C>T , CM000669.2:g.92095153C>T GRCh38
NC_000007.13:g.91724467C>T , CM000669.1:g.91724467C>T GRCh37
NC_000007.12:g.91562403C>T NCBI36
NG_011623.1:g.159279C>T , LRG_331:g.159279C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9709C>T (AKAP9) MANE Select NP_005742.4:p.Arg3237Trp
ENST00000356239.8:c.9709C>T (AKAP9) MANE Select ENSP00000348573.3:p.Arg3237Trp
NM_001379277.1:c.4354C>T (AKAP9) NP_001366206.1:p.Arg1452Trp
NM_005751.4:c.9709C>T , LRG_331t1:c.9709C>T (AKAP9) NP_005742.4:p.Arg3237Trp
NM_147185.2:c.9685C>T (AKAP9) NP_671714.1:p.Arg3229Trp
NM_147185.3:c.9685C>T (AKAP9) NP_671714.1:p.Arg3229Trp
ENST00000356239.7:c.9709C>T (AKAP9) ENSP00000348573.3:p.Arg3237Trp
ENST00000359028.6:c.9718C>T (AKAP9) ENSP00000351922.3:p.Arg3240Trp
ENST00000359028.7:c.9781C>T (AKAP9) ENSP00000351922.4:p.Arg3261Trp
ENST00000394534.6:c.3247C>T (AKAP9) ENSP00000378042.2:p.Arg1083Trp
ENST00000394534.7:c.3202C>T (AKAP9) ENSP00000378042.3:p.Arg1068Trp
ENST00000487258.5:n.1459C>T (AKAP9)
ENST00000487692.2:n.1787C>T (AKAP9)
ENST00000491695.2:c.4354C>T (AKAP9) ENSP00000494626.2:p.Arg1452Trp
ENST00000679448.1:c.*589C>T (AKAP9) ENSP00000505889.1:n.*589C>T
ENST00000679457.1:c.9685C>T (AKAP9) ENSP00000505450.1:p.Arg3229Trp
ENST00000679474.1:n.9907C>T (AKAP9)
ENST00000679521.1:c.9655C>T (AKAP9) ENSP00000505456.1:p.Arg3219Trp
ENST00000679821.1:c.9451C>T (AKAP9) ENSP00000506040.1:p.Arg3151Trp
ENST00000680047.1:n.9907C>T (AKAP9)
ENST00000680072.1:c.9532C>T (AKAP9) ENSP00000506581.1:p.Arg3178Trp
ENST00000680181.1:c.9616C>T (AKAP9) ENSP00000505548.1:p.Arg3206Trp
ENST00000680365.1:c.3202C>T (AKAP9) ENSP00000506019.1:p.Arg1068Trp
ENST00000680513.1:c.9568C>T (AKAP9) ENSP00000505284.1:p.Arg3190Trp
ENST00000680534.1:c.9748C>T (AKAP9) ENSP00000506674.1:p.Arg3250Trp
ENST00000680766.1:c.9685C>T (AKAP9) ENSP00000505204.1:p.Arg3229Trp
ENST00000680952.1:c.9685C>T (AKAP9) ENSP00000506407.1:p.Arg3229Trp
ENST00000681216.1:c.3469C>T (AKAP9) ENSP00000505551.1:n.3469C>T
ENST00000681412.1:c.9709C>T (AKAP9) ENSP00000506486.1:p.Arg3237Trp
ENST00000681722.1:c.9685C>T (AKAP9) ENSP00000506566.1:p.Arg3229Trp
ENST00000691309.1:c.1352-9551G>A (CYP51A1) ENSP00000510368.1:n.1352-9551G>A
XM_006715827.1:c.9568C>T (AKAP9) XP_006715890.1:p.Arg3190Trp
XM_011515709.1:c.9856C>T (AKAP9) XP_011514011.1:p.Arg3286Trp
XM_011515710.1:c.9880C>T (AKAP9) XP_011514012.1:p.Arg3294Trp
XM_011515711.1:c.9820C>T (AKAP9) XP_011514013.1:p.Arg3274Trp
XM_011515712.1:c.9817C>T (AKAP9) XP_011514014.1:p.Arg3273Trp
XM_011515713.1:c.9802C>T (AKAP9) XP_011514015.1:p.Arg3268Trp
XM_011515714.1:c.9841C>T (AKAP9) XP_011514016.1:p.Arg3281Trp
XM_011515716.1:c.9760C>T (AKAP9) XP_011514018.1:p.Arg3254Trp
XM_011515717.1:c.9715C>T (AKAP9) XP_011514019.1:p.Arg3239Trp
XM_011515718.1:c.9745C>T (AKAP9) XP_011514020.1:p.Arg3249Trp
XM_011515719.1:c.9721C>T (AKAP9) XP_011514021.1:p.Arg3241Trp
XM_011515721.1:c.4369C>T (AKAP9) XP_011514023.1:p.Arg1457Trp
XM_011515722.1:c.4330C>T (AKAP9) XP_011514024.1:p.Arg1444Trp
XM_017011642.2:c.9844C>T (AKAP9) XP_016867131.1:p.Arg3282Trp
XM_017011643.2:c.9805C>T (AKAP9) XP_016867132.1:p.Arg3269Trp
XM_017011644.2:c.9844C>T (AKAP9) XP_016867133.1:p.Arg3282Trp
XM_017011645.2:c.9790C>T (AKAP9) XP_016867134.1:p.Arg3264Trp
XM_017011646.2:c.9805C>T (AKAP9) XP_016867135.1:p.Arg3269Trp
XM_017011647.2:c.9751C>T (AKAP9) XP_016867136.1:p.Arg3251Trp
XM_017011648.2:c.9748C>T (AKAP9) XP_016867137.1:p.Arg3250Trp
XM_017011649.2:c.9781C>T (AKAP9) XP_016867138.1:p.Arg3261Trp
XM_017011650.2:c.9709C>T (AKAP9) XP_016867139.1:p.Arg3237Trp
XM_017011651.2:c.9703C>T (AKAP9) XP_016867140.1:p.Arg3235Trp
XM_017011652.2:c.9655C>T (AKAP9) XP_016867141.1:p.Arg3219Trp
XM_017011653.2:c.9616C>T (AKAP9) XP_016867142.1:p.Arg3206Trp
XM_017011654.2:c.9568C>T (AKAP9) XP_016867143.1:p.Arg3190Trp
XM_017011655.2:c.9472C>T (AKAP9) XP_016867144.1:p.Arg3158Trp
XM_017011656.2:c.9472C>T (AKAP9) XP_016867145.1:p.Arg3158Trp
XM_017011657.2:c.5509C>T (AKAP9) XP_016867146.1:p.Arg1837Trp
XM_017011658.2:c.4393C>T (AKAP9) XP_016867147.1:p.Arg1465Trp
XM_017011659.2:c.4354C>T (AKAP9) XP_016867148.1:p.Arg1452Trp
XM_017011660.2:c.4354C>T (AKAP9) XP_016867149.1:p.Arg1452Trp
XM_024446631.1:c.9607C>T (AKAP9) XP_024302399.1:p.Arg3203Trp