Canonical Allele Identifier: CA4337360
Community Standard Title: NM_005751.5(AKAP9):c.7886T>C (p.Val2629Ala)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92080019T>C , CM000669.2:g.92080019T>C GRCh38
NC_000007.13:g.91709333T>C , CM000669.1:g.91709333T>C GRCh37
NC_000007.12:g.91547269T>C NCBI36
NG_011623.1:g.144145T>C , LRG_331:g.144145T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.7886T>C MANE Select NP_005742.4:p.Val2629Ala
ENST00000356239.8:c.7886T>C MANE Select ENSP00000348573.3:p.Val2629Ala
NM_001379277.1:c.2531T>C NP_001366206.1:p.Val844Ala
NM_005751.4:c.7886T>C , LRG_331t1:c.7886T>C NP_005742.4:p.Val2629Ala
NM_147185.2:c.7862T>C NP_671714.1:p.Val2621Ala
NM_147185.3:c.7862T>C NP_671714.1:p.Val2621Ala
ENST00000356239.7:c.7886T>C ENSP00000348573.3:p.Val2629Ala
ENST00000358100.6:c.7745T>C ENSP00000350813.3:p.Val2582Ala
ENST00000359028.6:c.7919T>C ENSP00000351922.3:p.Val2640Ala
ENST00000359028.7:c.7958T>C ENSP00000351922.4:p.Val2653Ala
ENST00000394534.6:c.1424T>C ENSP00000378042.2:p.Val475Ala
ENST00000394534.7:c.1379T>C ENSP00000378042.3:p.Val460Ala
ENST00000491695.2:c.2531T>C ENSP00000494626.2:p.Val844Ala
ENST00000674381.2:c.*7615T>C ENSP00000501536.2:n.*7615T>C
ENST00000679448.1:c.7862T>C ENSP00000505889.1:p.Val2621Ala
ENST00000679457.1:c.7862T>C ENSP00000505450.1:p.Val2621Ala
ENST00000679474.1:n.8084T>C
ENST00000679521.1:c.7832T>C ENSP00000505456.1:p.Val2611Ala
ENST00000679554.1:c.*7671T>C ENSP00000506415.1:n.*7671T>C
ENST00000679722.1:n.8108T>C
ENST00000679821.1:c.7628T>C ENSP00000506040.1:p.Val2543Ala
ENST00000680047.1:n.8084T>C
ENST00000680072.1:c.7709T>C ENSP00000506581.1:p.Val2570Ala
ENST00000680181.1:c.7793T>C ENSP00000505548.1:p.Val2598Ala
ENST00000680365.1:c.1379T>C ENSP00000506019.1:p.Val460Ala
ENST00000680513.1:c.7745T>C ENSP00000505284.1:p.Val2582Ala
ENST00000680534.1:c.7925T>C ENSP00000506674.1:p.Val2642Ala
ENST00000680766.1:c.7862T>C ENSP00000505204.1:p.Val2621Ala
ENST00000680952.1:c.7862T>C ENSP00000506407.1:p.Val2621Ala
ENST00000681216.1:c.1379T>C ENSP00000505551.1:p.Val460Ala
ENST00000681412.1:c.7886T>C ENSP00000506486.1:p.Val2629Ala
ENST00000681722.1:c.7862T>C ENSP00000506566.1:p.Val2621Ala
XM_006715827.1:c.7745T>C XP_006715890.1:p.Val2582Ala
XM_011515709.1:c.8033T>C XP_011514011.1:p.Val2678Ala
XM_011515710.1:c.8057T>C XP_011514012.1:p.Val2686Ala
XM_011515711.1:c.7997T>C XP_011514013.1:p.Val2666Ala
XM_011515712.1:c.7994T>C XP_011514014.1:p.Val2665Ala
XM_011515713.1:c.7979T>C XP_011514015.1:p.Val2660Ala
XM_011515714.1:c.8018T>C XP_011514016.1:p.Val2673Ala
XM_011515716.1:c.7937T>C XP_011514018.1:p.Val2646Ala
XM_011515717.1:c.7892T>C XP_011514019.1:p.Val2631Ala
XM_011515718.1:c.7922T>C XP_011514020.1:p.Val2641Ala
XM_011515719.1:c.7898T>C XP_011514021.1:p.Val2633Ala
XM_011515720.1:c.7781T>C XP_011514022.1:p.Val2594Ala
XM_011515721.1:c.2546T>C XP_011514023.1:p.Val849Ala
XM_011515722.1:c.2507T>C XP_011514024.1:p.Val836Ala
XM_017011642.2:c.8021T>C XP_016867131.1:p.Val2674Ala
XM_017011643.2:c.7982T>C XP_016867132.1:p.Val2661Ala
XM_017011644.2:c.8021T>C XP_016867133.1:p.Val2674Ala
XM_017011645.2:c.7967T>C XP_016867134.1:p.Val2656Ala
XM_017011646.2:c.7982T>C XP_016867135.1:p.Val2661Ala
XM_017011647.2:c.7928T>C XP_016867136.1:p.Val2643Ala
XM_017011648.2:c.7925T>C XP_016867137.1:p.Val2642Ala
XM_017011649.2:c.7958T>C XP_016867138.1:p.Val2653Ala
XM_017011650.2:c.7886T>C XP_016867139.1:p.Val2629Ala
XM_017011651.2:c.7880T>C XP_016867140.1:p.Val2627Ala
XM_017011652.2:c.8021T>C XP_016867141.1:p.Val2674Ala
XM_017011653.2:c.7793T>C XP_016867142.1:p.Val2598Ala
XM_017011654.2:c.7745T>C XP_016867143.1:p.Val2582Ala
XM_017011655.2:c.7649T>C XP_016867144.1:p.Val2550Ala
XM_017011656.2:c.7649T>C XP_016867145.1:p.Val2550Ala
XM_017011657.2:c.3686T>C XP_016867146.1:p.Val1229Ala
XM_017011658.2:c.2570T>C XP_016867147.1:p.Val857Ala
XM_017011659.2:c.2531T>C XP_016867148.1:p.Val844Ala
XM_017011660.2:c.2531T>C XP_016867149.1:p.Val844Ala
XM_024446631.1:c.7784T>C XP_024302399.1:p.Val2595Ala