Canonical Allele Identifier: CA4337648
Community Standard Title: NM_005751.5(AKAP9):c.9032A>G (p.Asp3011Gly)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92086235A>G , CM000669.2:g.92086235A>G GRCh38
NC_000007.13:g.91715549A>G , CM000669.1:g.91715549A>G GRCh37
NC_000007.12:g.91553485A>G NCBI36
NG_011623.1:g.150361A>G , LRG_331:g.150361A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9032A>G (AKAP9) MANE Select NP_005742.4:p.Asp3011Gly
ENST00000356239.8:c.9032A>G (AKAP9) MANE Select ENSP00000348573.3:p.Asp3011Gly
NM_001379277.1:c.3677A>G (AKAP9) NP_001366206.1:p.Asp1226Gly
NM_005751.4:c.9032A>G , LRG_331t1:c.9032A>G (AKAP9) NP_005742.4:p.Asp3011Gly
NM_147185.2:c.9008A>G (AKAP9) NP_671714.1:p.Asp3003Gly
NM_147185.3:c.9008A>G (AKAP9) NP_671714.1:p.Asp3003Gly
ENST00000356239.7:c.9032A>G (AKAP9) ENSP00000348573.3:p.Asp3011Gly
ENST00000358100.6:c.8891A>G (AKAP9) ENSP00000350813.3:p.Asp2964Gly
ENST00000359028.6:c.9041A>G (AKAP9) ENSP00000351922.3:p.Asp3014Gly
ENST00000359028.7:c.9104A>G (AKAP9) ENSP00000351922.4:p.Asp3035Gly
ENST00000394534.6:c.2570A>G (AKAP9) ENSP00000378042.2:p.Asp857Gly
ENST00000394534.7:c.2525A>G (AKAP9) ENSP00000378042.3:p.Asp842Gly
ENST00000435423.1:c.466A>G (AKAP9)
ENST00000435423.2:n.872A>G (AKAP9)
ENST00000491695.2:c.3677A>G (AKAP9) ENSP00000494626.2:p.Asp1226Gly
ENST00000679448.1:c.9008A>G (AKAP9) ENSP00000505889.1:p.Asp3003Gly
ENST00000679457.1:c.9008A>G (AKAP9) ENSP00000505450.1:p.Asp3003Gly
ENST00000679474.1:n.9230A>G (AKAP9)
ENST00000679521.1:c.8978A>G (AKAP9) ENSP00000505456.1:p.Asp2993Gly
ENST00000679821.1:c.8774A>G (AKAP9) ENSP00000506040.1:p.Asp2925Gly
ENST00000680047.1:n.9230A>G (AKAP9)
ENST00000680072.1:c.8855A>G (AKAP9) ENSP00000506581.1:p.Asp2952Gly
ENST00000680181.1:c.8939A>G (AKAP9) ENSP00000505548.1:p.Asp2980Gly
ENST00000680365.1:c.2525A>G (AKAP9) ENSP00000506019.1:p.Asp842Gly
ENST00000680513.1:c.8891A>G (AKAP9) ENSP00000505284.1:p.Asp2964Gly
ENST00000680534.1:c.9071A>G (AKAP9) ENSP00000506674.1:p.Asp3024Gly
ENST00000680766.1:c.9008A>G (AKAP9) ENSP00000505204.1:p.Asp3003Gly
ENST00000680952.1:c.9008A>G (AKAP9) ENSP00000506407.1:p.Asp3003Gly
ENST00000681216.1:c.2369A>G (AKAP9) ENSP00000505551.1:p.Asp790Gly
ENST00000681412.1:c.9032A>G (AKAP9) ENSP00000506486.1:p.Asp3011Gly
ENST00000681722.1:c.9008A>G (AKAP9) ENSP00000506566.1:p.Asp3003Gly
ENST00000691309.1:c.1352-633T>C (CYP51A1) ENSP00000510368.1:n.1352-633T>C
XM_006715827.1:c.8891A>G (AKAP9) XP_006715890.1:p.Asp2964Gly
XM_011515709.1:c.9179A>G (AKAP9) XP_011514011.1:p.Asp3060Gly
XM_011515710.1:c.9203A>G (AKAP9) XP_011514012.1:p.Asp3068Gly
XM_011515711.1:c.9143A>G (AKAP9) XP_011514013.1:p.Asp3048Gly
XM_011515712.1:c.9140A>G (AKAP9) XP_011514014.1:p.Asp3047Gly
XM_011515713.1:c.9125A>G (AKAP9) XP_011514015.1:p.Asp3042Gly
XM_011515714.1:c.9164A>G (AKAP9) XP_011514016.1:p.Asp3055Gly
XM_011515716.1:c.9083A>G (AKAP9) XP_011514018.1:p.Asp3028Gly
XM_011515717.1:c.9038A>G (AKAP9) XP_011514019.1:p.Asp3013Gly
XM_011515718.1:c.9068A>G (AKAP9) XP_011514020.1:p.Asp3023Gly
XM_011515719.1:c.9044A>G (AKAP9) XP_011514021.1:p.Asp3015Gly
XM_011515720.1:c.8927A>G (AKAP9) XP_011514022.1:p.Asp2976Gly
XM_011515721.1:c.3692A>G (AKAP9) XP_011514023.1:p.Asp1231Gly
XM_011515722.1:c.3653A>G (AKAP9) XP_011514024.1:p.Asp1218Gly
XM_017011642.2:c.9167A>G (AKAP9) XP_016867131.1:p.Asp3056Gly
XM_017011643.2:c.9128A>G (AKAP9) XP_016867132.1:p.Asp3043Gly
XM_017011644.2:c.9167A>G (AKAP9) XP_016867133.1:p.Asp3056Gly
XM_017011645.2:c.9113A>G (AKAP9) XP_016867134.1:p.Asp3038Gly
XM_017011646.2:c.9128A>G (AKAP9) XP_016867135.1:p.Asp3043Gly
XM_017011647.2:c.9074A>G (AKAP9) XP_016867136.1:p.Asp3025Gly
XM_017011648.2:c.9071A>G (AKAP9) XP_016867137.1:p.Asp3024Gly
XM_017011649.2:c.9104A>G (AKAP9) XP_016867138.1:p.Asp3035Gly
XM_017011650.2:c.9032A>G (AKAP9) XP_016867139.1:p.Asp3011Gly
XM_017011651.2:c.9026A>G (AKAP9) XP_016867140.1:p.Asp3009Gly
XM_017011652.2:c.9159+549A>G (AKAP9) XP_016867141.1:n.9159+549A>G
XM_017011653.2:c.8939A>G (AKAP9) XP_016867142.1:p.Asp2980Gly
XM_017011654.2:c.8891A>G (AKAP9) XP_016867143.1:p.Asp2964Gly
XM_017011655.2:c.8795A>G (AKAP9) XP_016867144.1:p.Asp2932Gly
XM_017011656.2:c.8795A>G (AKAP9) XP_016867145.1:p.Asp2932Gly
XM_017011657.2:c.4832A>G (AKAP9) XP_016867146.1:p.Asp1611Gly
XM_017011658.2:c.3716A>G (AKAP9) XP_016867147.1:p.Asp1239Gly
XM_017011659.2:c.3677A>G (AKAP9) XP_016867148.1:p.Asp1226Gly
XM_017011660.2:c.3677A>G (AKAP9) XP_016867149.1:p.Asp1226Gly
XM_024446631.1:c.8930A>G (AKAP9) XP_024302399.1:p.Asp2977Gly