Canonical Allele Identifier: CA368158570
Gene: CYP51A1 HGNC NCBI
AKAP9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92099748A>G , CM000669.2:g.92099748A>G GRCh38
NC_000007.13:g.91729062A>G , CM000669.1:g.91729062A>G GRCh37
NC_000007.12:g.91566998A>G NCBI36
NG_011623.1:g.163874A>G , LRG_331:g.163874A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691309.1:c.1352-14146T>C (CYP51A1) ENSP00000510368.1:n.1352-14146T>C
ENST00000356239.8:c.10775A>G (AKAP9) MANE Select ENSP00000348573.3:p.Asn3592Ser
ENST00000359028.7:c.10847A>G (AKAP9) ENSP00000351922.4:p.Asn3616Ser
ENST00000394534.7:c.3767A>G (AKAP9) ENSP00000378042.3:p.Asn1256Ser
ENST00000463118.2:n.123A>G (AKAP9)
ENST00000486313.2:c.263A>G (AKAP9) ENSP00000505389.1:p.Asn88Ser
ENST00000487692.2:n.2853A>G (AKAP9)
ENST00000491695.2:c.5420A>G (AKAP9) ENSP00000494626.2:p.Asn1807Ser
ENST00000679448.1:c.*1655A>G (AKAP9) ENSP00000505889.1:n.*1655A>G
ENST00000679457.1:c.10751A>G (AKAP9) ENSP00000505450.1:p.Asn3584Ser
ENST00000679474.1:n.10973A>G (AKAP9)
ENST00000679521.1:c.10721A>G (AKAP9) ENSP00000505456.1:p.Asn3574Ser
ENST00000679821.1:c.10517A>G (AKAP9) ENSP00000506040.1:p.Asn3506Ser
ENST00000680047.1:n.12445A>G (AKAP9)
ENST00000680072.1:c.10598A>G (AKAP9) ENSP00000506581.1:p.Asn3533Ser
ENST00000680181.1:c.10682A>G (AKAP9) ENSP00000505548.1:p.Asn3561Ser
ENST00000680365.1:c.4414A>G (AKAP9) ENSP00000506019.1:n.4414A>G
ENST00000680513.1:c.10634A>G (AKAP9) ENSP00000505284.1:p.Asn3545Ser
ENST00000680534.1:c.10814A>G (AKAP9) ENSP00000506674.1:p.Asn3605Ser
ENST00000680766.1:c.10751A>G (AKAP9) ENSP00000505204.1:p.Asn3584Ser
ENST00000680952.1:c.10751A>G (AKAP9) ENSP00000506407.1:p.Asn3584Ser
ENST00000681216.1:c.4535A>G (AKAP9) ENSP00000505551.1:n.4535A>G
ENST00000681412.1:c.10775A>G (AKAP9) ENSP00000506486.1:p.Asn3592Ser
ENST00000681722.1:c.10751A>G (AKAP9) ENSP00000506566.1:p.Asn3584Ser
ENST00000356239.7:c.10775A>G (AKAP9) ENSP00000348573.3:p.Asn3592Ser
ENST00000359028.6:c.10784A>G (AKAP9) ENSP00000351922.3:p.Asn3595Ser
ENST00000394534.6:c.4313A>G (AKAP9) ENSP00000378042.2:p.Asn1438Ser
ENST00000463118.1:n.123A>G (AKAP9)
ENST00000487258.5:n.2525A>G (AKAP9)
ENST00000487692.1:n.575A>G (AKAP9)
NM_005751.4:c.10775A>G , LRG_331t1:c.10775A>G (AKAP9) NP_005742.4:p.Asn3592Ser
NM_147185.2:c.10751A>G (AKAP9) NP_671714.1:p.Asn3584Ser
XM_006715827.1:c.10634A>G (AKAP9) XP_006715890.1:p.Asn3545Ser
XM_011515709.1:c.10922A>G (AKAP9) XP_011514011.1:p.Asn3641Ser
XM_011515710.1:c.10946A>G (AKAP9) XP_011514012.1:p.Asn3649Ser
XM_011515711.1:c.10886A>G (AKAP9) XP_011514013.1:p.Asn3629Ser
XM_011515712.1:c.10883A>G (AKAP9) XP_011514014.1:p.Asn3628Ser
XM_011515713.1:c.10868A>G (AKAP9) XP_011514015.1:p.Asn3623Ser
XM_011515714.1:c.10907A>G (AKAP9) XP_011514016.1:p.Asn3636Ser
XM_011515716.1:c.10826A>G (AKAP9) XP_011514018.1:p.Asn3609Ser
XM_011515717.1:c.10781A>G (AKAP9) XP_011514019.1:p.Asn3594Ser
XM_011515718.1:c.10811A>G (AKAP9) XP_011514020.1:p.Asn3604Ser
XM_011515719.1:c.10787A>G (AKAP9) XP_011514021.1:p.Asn3596Ser
XM_011515721.1:c.5435A>G (AKAP9) XP_011514023.1:p.Asn1812Ser
XM_011515722.1:c.5396A>G (AKAP9) XP_011514024.1:p.Asn1799Ser
XM_017011642.2:c.10910A>G (AKAP9) XP_016867131.1:p.Asn3637Ser
XM_017011643.2:c.10871A>G (AKAP9) XP_016867132.1:p.Asn3624Ser
XM_017011644.2:c.10910A>G (AKAP9) XP_016867133.1:p.Asn3637Ser
XM_017011645.2:c.10856A>G (AKAP9) XP_016867134.1:p.Asn3619Ser
XM_017011646.2:c.10871A>G (AKAP9) XP_016867135.1:p.Asn3624Ser
XM_017011647.2:c.10817A>G (AKAP9) XP_016867136.1:p.Asn3606Ser
XM_017011648.2:c.10814A>G (AKAP9) XP_016867137.1:p.Asn3605Ser
XM_017011649.2:c.10847A>G (AKAP9) XP_016867138.1:p.Asn3616Ser
XM_017011650.2:c.10775A>G (AKAP9) XP_016867139.1:p.Asn3592Ser
XM_017011651.2:c.10769A>G (AKAP9) XP_016867140.1:p.Asn3590Ser
XM_017011652.2:c.10721A>G (AKAP9) XP_016867141.1:p.Asn3574Ser
XM_017011653.2:c.10682A>G (AKAP9) XP_016867142.1:p.Asn3561Ser
XM_017011654.2:c.10634A>G (AKAP9) XP_016867143.1:p.Asn3545Ser
XM_017011655.2:c.10538A>G (AKAP9) XP_016867144.1:p.Asn3513Ser
XM_017011656.2:c.10538A>G (AKAP9) XP_016867145.1:p.Asn3513Ser
XM_017011657.2:c.6575A>G (AKAP9) XP_016867146.1:p.Asn2192Ser
XM_017011658.2:c.5459A>G (AKAP9) XP_016867147.1:p.Asn1820Ser
XM_017011659.2:c.5420A>G (AKAP9) XP_016867148.1:p.Asn1807Ser
XM_017011660.2:c.5420A>G (AKAP9) XP_016867149.1:p.Asn1807Ser
XM_024446631.1:c.10673A>G (AKAP9) XP_024302399.1:p.Asn3558Ser
NM_147185.3:c.10751A>G (AKAP9) NP_671714.1:p.Asn3584Ser
NM_001379277.1:c.5420A>G (AKAP9) NP_001366206.1:p.Asn1807Ser
NM_005751.5:c.10775A>G (AKAP9) MANE Select NP_005742.4:p.Asn3592Ser