Canonical Allele Identifier: CA4337421
Community Standard Title: NM_005751.5(AKAP9):c.8149G>C (p.Glu2717Gln)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92082651G>C , CM000669.2:g.92082651G>C GRCh38
NC_000007.13:g.91711965G>C , CM000669.1:g.91711965G>C GRCh37
NC_000007.12:g.91549901G>C NCBI36
NG_011623.1:g.146777G>C , LRG_331:g.146777G>C

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.8149G>C MANE Select NP_005742.4:p.Glu2717Gln
ENST00000356239.8:c.8149G>C MANE Select ENSP00000348573.3:p.Glu2717Gln
NM_001379277.1:c.2794G>C NP_001366206.1:p.Glu932Gln
NM_005751.4:c.8149G>C , LRG_331t1:c.8149G>C NP_005742.4:p.Glu2717Gln
NM_147185.2:c.8125G>C NP_671714.1:p.Glu2709Gln
NM_147185.3:c.8125G>C NP_671714.1:p.Glu2709Gln
ENST00000356239.7:c.8149G>C ENSP00000348573.3:p.Glu2717Gln
ENST00000358100.6:c.8008G>C ENSP00000350813.3:p.Glu2670Gln
ENST00000359028.6:c.8182G>C ENSP00000351922.3:p.Glu2728Gln
ENST00000359028.7:c.8221G>C ENSP00000351922.4:p.Glu2741Gln
ENST00000394534.6:c.1687G>C ENSP00000378042.2:p.Glu563Gln
ENST00000394534.7:c.1642G>C ENSP00000378042.3:p.Glu548Gln
ENST00000491695.2:c.2794G>C ENSP00000494626.2:p.Glu932Gln
ENST00000674381.2:c.*7878G>C ENSP00000501536.2:n.*7878G>C
ENST00000679448.1:c.8125G>C ENSP00000505889.1:p.Glu2709Gln
ENST00000679457.1:c.8125G>C ENSP00000505450.1:p.Glu2709Gln
ENST00000679474.1:n.8347G>C
ENST00000679521.1:c.8095G>C ENSP00000505456.1:p.Glu2699Gln
ENST00000679554.1:c.*7934G>C ENSP00000506415.1:n.*7934G>C
ENST00000679722.1:n.8371G>C
ENST00000679821.1:c.7891G>C ENSP00000506040.1:p.Glu2631Gln
ENST00000680047.1:n.8347G>C
ENST00000680072.1:c.7972G>C ENSP00000506581.1:p.Glu2658Gln
ENST00000680181.1:c.8056G>C ENSP00000505548.1:p.Glu2686Gln
ENST00000680365.1:c.1642G>C ENSP00000506019.1:p.Glu548Gln
ENST00000680513.1:c.8008G>C ENSP00000505284.1:p.Glu2670Gln
ENST00000680534.1:c.8188G>C ENSP00000506674.1:p.Glu2730Gln
ENST00000680766.1:c.8125G>C ENSP00000505204.1:p.Glu2709Gln
ENST00000680952.1:c.8125G>C ENSP00000506407.1:p.Glu2709Gln
ENST00000681216.1:c.1642G>C ENSP00000505551.1:p.Glu548Gln
ENST00000681412.1:c.8149G>C ENSP00000506486.1:p.Glu2717Gln
ENST00000681722.1:c.8125G>C ENSP00000506566.1:p.Glu2709Gln
XM_006715827.1:c.8008G>C XP_006715890.1:p.Glu2670Gln
XM_011515709.1:c.8296G>C XP_011514011.1:p.Glu2766Gln
XM_011515710.1:c.8320G>C XP_011514012.1:p.Glu2774Gln
XM_011515711.1:c.8260G>C XP_011514013.1:p.Glu2754Gln
XM_011515712.1:c.8257G>C XP_011514014.1:p.Glu2753Gln
XM_011515713.1:c.8242G>C XP_011514015.1:p.Glu2748Gln
XM_011515714.1:c.8281G>C XP_011514016.1:p.Glu2761Gln
XM_011515716.1:c.8200G>C XP_011514018.1:p.Glu2734Gln
XM_011515717.1:c.8155G>C XP_011514019.1:p.Glu2719Gln
XM_011515718.1:c.8185G>C XP_011514020.1:p.Glu2729Gln
XM_011515719.1:c.8161G>C XP_011514021.1:p.Glu2721Gln
XM_011515720.1:c.8044G>C XP_011514022.1:p.Glu2682Gln
XM_011515721.1:c.2809G>C XP_011514023.1:p.Glu937Gln
XM_011515722.1:c.2770G>C XP_011514024.1:p.Glu924Gln
XM_017011642.2:c.8284G>C XP_016867131.1:p.Glu2762Gln
XM_017011643.2:c.8245G>C XP_016867132.1:p.Glu2749Gln
XM_017011644.2:c.8284G>C XP_016867133.1:p.Glu2762Gln
XM_017011645.2:c.8230G>C XP_016867134.1:p.Glu2744Gln
XM_017011646.2:c.8245G>C XP_016867135.1:p.Glu2749Gln
XM_017011647.2:c.8191G>C XP_016867136.1:p.Glu2731Gln
XM_017011648.2:c.8188G>C XP_016867137.1:p.Glu2730Gln
XM_017011649.2:c.8221G>C XP_016867138.1:p.Glu2741Gln
XM_017011650.2:c.8149G>C XP_016867139.1:p.Glu2717Gln
XM_017011651.2:c.8143G>C XP_016867140.1:p.Glu2715Gln
XM_017011652.2:c.8284G>C XP_016867141.1:p.Glu2762Gln
XM_017011653.2:c.8056G>C XP_016867142.1:p.Glu2686Gln
XM_017011654.2:c.8008G>C XP_016867143.1:p.Glu2670Gln
XM_017011655.2:c.7912G>C XP_016867144.1:p.Glu2638Gln
XM_017011656.2:c.7912G>C XP_016867145.1:p.Glu2638Gln
XM_017011657.2:c.3949G>C XP_016867146.1:p.Glu1317Gln
XM_017011658.2:c.2833G>C XP_016867147.1:p.Glu945Gln
XM_017011659.2:c.2794G>C XP_016867148.1:p.Glu932Gln
XM_017011660.2:c.2794G>C XP_016867149.1:p.Glu932Gln
XM_024446631.1:c.8047G>C XP_024302399.1:p.Glu2683Gln