Canonical Allele Identifier: CA10582549
Community Standard Title: NM_005751.5(AKAP9):c.9443C>T (p.Thr3148Met)
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92093181C>T , CM000669.2:g.92093181C>T GRCh38
NC_000007.13:g.91722495C>T , CM000669.1:g.91722495C>T GRCh37
NC_000007.12:g.91560431C>T NCBI36
NG_011623.1:g.157307C>T , LRG_331:g.157307C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.9443C>T (AKAP9) MANE Select NP_005742.4:p.Thr3148Met
ENST00000356239.8:c.9443C>T (AKAP9) MANE Select ENSP00000348573.3:p.Thr3148Met
NM_001379277.1:c.4088C>T (AKAP9) NP_001366206.1:p.Thr1363Met
NM_005751.4:c.9443C>T , LRG_331t1:c.9443C>T (AKAP9) NP_005742.4:p.Thr3148Met
NM_147185.2:c.9419C>T (AKAP9) NP_671714.1:p.Thr3140Met
NM_147185.3:c.9419C>T (AKAP9) NP_671714.1:p.Thr3140Met
ENST00000356239.7:c.9443C>T (AKAP9) ENSP00000348573.3:p.Thr3148Met
ENST00000359028.6:c.9452C>T (AKAP9) ENSP00000351922.3:p.Thr3151Met
ENST00000359028.7:c.9515C>T (AKAP9) ENSP00000351922.4:p.Thr3172Met
ENST00000394534.6:c.2981C>T (AKAP9) ENSP00000378042.2:p.Thr994Met
ENST00000394534.7:c.2936C>T (AKAP9) ENSP00000378042.3:p.Thr979Met
ENST00000487258.5:n.1193C>T (AKAP9)
ENST00000487692.2:n.1521C>T (AKAP9)
ENST00000491695.2:c.4088C>T (AKAP9) ENSP00000494626.2:p.Thr1363Met
ENST00000679448.1:c.*323C>T (AKAP9) ENSP00000505889.1:n.*323C>T
ENST00000679457.1:c.9419C>T (AKAP9) ENSP00000505450.1:p.Thr3140Met
ENST00000679474.1:n.9641C>T (AKAP9)
ENST00000679521.1:c.9389C>T (AKAP9) ENSP00000505456.1:p.Thr3130Met
ENST00000679821.1:c.9185C>T (AKAP9) ENSP00000506040.1:p.Thr3062Met
ENST00000680047.1:n.9641C>T (AKAP9)
ENST00000680072.1:c.9266C>T (AKAP9) ENSP00000506581.1:p.Thr3089Met
ENST00000680181.1:c.9350C>T (AKAP9) ENSP00000505548.1:p.Thr3117Met
ENST00000680365.1:c.2936C>T (AKAP9) ENSP00000506019.1:p.Thr979Met
ENST00000680513.1:c.9302C>T (AKAP9) ENSP00000505284.1:p.Thr3101Met
ENST00000680534.1:c.9482C>T (AKAP9) ENSP00000506674.1:p.Thr3161Met
ENST00000680766.1:c.9419C>T (AKAP9) ENSP00000505204.1:p.Thr3140Met
ENST00000680952.1:c.9419C>T (AKAP9) ENSP00000506407.1:p.Thr3140Met
ENST00000681216.1:c.3203C>T (AKAP9) ENSP00000505551.1:n.3203C>T
ENST00000681412.1:c.9443C>T (AKAP9) ENSP00000506486.1:p.Thr3148Met
ENST00000681722.1:c.9419C>T (AKAP9) ENSP00000506566.1:p.Thr3140Met
ENST00000691309.1:c.1352-7579G>A (CYP51A1) ENSP00000510368.1:n.1352-7579G>A
XM_006715827.1:c.9302C>T (AKAP9) XP_006715890.1:p.Thr3101Met
XM_011515709.1:c.9590C>T (AKAP9) XP_011514011.1:p.Thr3197Met
XM_011515710.1:c.9614C>T (AKAP9) XP_011514012.1:p.Thr3205Met
XM_011515711.1:c.9554C>T (AKAP9) XP_011514013.1:p.Thr3185Met
XM_011515712.1:c.9551C>T (AKAP9) XP_011514014.1:p.Thr3184Met
XM_011515713.1:c.9536C>T (AKAP9) XP_011514015.1:p.Thr3179Met
XM_011515714.1:c.9575C>T (AKAP9) XP_011514016.1:p.Thr3192Met
XM_011515716.1:c.9494C>T (AKAP9) XP_011514018.1:p.Thr3165Met
XM_011515717.1:c.9449C>T (AKAP9) XP_011514019.1:p.Thr3150Met
XM_011515718.1:c.9479C>T (AKAP9) XP_011514020.1:p.Thr3160Met
XM_011515719.1:c.9455C>T (AKAP9) XP_011514021.1:p.Thr3152Met
XM_011515721.1:c.4103C>T (AKAP9) XP_011514023.1:p.Thr1368Met
XM_011515722.1:c.4064C>T (AKAP9) XP_011514024.1:p.Thr1355Met
XM_017011642.2:c.9578C>T (AKAP9) XP_016867131.1:p.Thr3193Met
XM_017011643.2:c.9539C>T (AKAP9) XP_016867132.1:p.Thr3180Met
XM_017011644.2:c.9578C>T (AKAP9) XP_016867133.1:p.Thr3193Met
XM_017011645.2:c.9524C>T (AKAP9) XP_016867134.1:p.Thr3175Met
XM_017011646.2:c.9539C>T (AKAP9) XP_016867135.1:p.Thr3180Met
XM_017011647.2:c.9485C>T (AKAP9) XP_016867136.1:p.Thr3162Met
XM_017011648.2:c.9482C>T (AKAP9) XP_016867137.1:p.Thr3161Met
XM_017011649.2:c.9515C>T (AKAP9) XP_016867138.1:p.Thr3172Met
XM_017011650.2:c.9443C>T (AKAP9) XP_016867139.1:p.Thr3148Met
XM_017011651.2:c.9437C>T (AKAP9) XP_016867140.1:p.Thr3146Met
XM_017011652.2:c.9389C>T (AKAP9) XP_016867141.1:p.Thr3130Met
XM_017011653.2:c.9350C>T (AKAP9) XP_016867142.1:p.Thr3117Met
XM_017011654.2:c.9302C>T (AKAP9) XP_016867143.1:p.Thr3101Met
XM_017011655.2:c.9206C>T (AKAP9) XP_016867144.1:p.Thr3069Met
XM_017011656.2:c.9206C>T (AKAP9) XP_016867145.1:p.Thr3069Met
XM_017011657.2:c.5243C>T (AKAP9) XP_016867146.1:p.Thr1748Met
XM_017011658.2:c.4127C>T (AKAP9) XP_016867147.1:p.Thr1376Met
XM_017011659.2:c.4088C>T (AKAP9) XP_016867148.1:p.Thr1363Met
XM_017011660.2:c.4088C>T (AKAP9) XP_016867149.1:p.Thr1363Met
XM_024446631.1:c.9341C>T (AKAP9) XP_024302399.1:p.Thr3114Met