Canonical Allele Identifier: CA10629567

Gene: AKAP9

Linked Data

• ClinVar Variation Id: 360830
• ClinVar RCV Id: RCV000283253 ; RCV002519509 ; RCV002348112 ; RCV002480246
• dbSNP Id: rs886062474
• gnomAD v4: 7-92052853-A-G
• MyVariant Identifiers: chr7:g.91682167A>G (hg19) ; chr7:g.92052853A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92052853A>G , CM000669.2:g.92052853A>G	GRCh38
NC_000007.13:g.91682167A>G , CM000669.1:g.91682167A>G	GRCh37
NC_000007.12:g.91520103A>G	NCBI36
NG_011623.1:g.116979A>G , LRG_331:g.116979A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356239.8:c.5496A>G MANE Select	ENSP00000348573.3:p.Gly1832=
ENST00000359028.7:c.5592A>G	ENSP00000351922.4:p.Gly1864=
ENST00000674381.2:c.*5225A>G	ENSP00000501536.2:n.*5225A>G
ENST00000679448.1:c.5496A>G	ENSP00000505889.1:p.Gly1832=
ENST00000679457.1:c.5496A>G	ENSP00000505450.1:p.Gly1832=
ENST00000679474.1:n.5718A>G
ENST00000679521.1:c.5442A>G	ENSP00000505456.1:p.Gly1814=
ENST00000679554.1:c.*5281A>G	ENSP00000506415.1:n.*5281A>G
ENST00000679722.1:n.5718A>G
ENST00000679821.1:c.5238A>G	ENSP00000506040.1:p.Gly1746=
ENST00000680047.1:n.5718A>G
ENST00000680072.1:c.5496A>G	ENSP00000506581.1:p.Gly1832=
ENST00000680074.1:n.5718A>G
ENST00000680181.1:c.5403A>G	ENSP00000505548.1:p.Gly1801=
ENST00000680513.1:c.5355A>G	ENSP00000505284.1:p.Gly1785=
ENST00000680534.1:c.5496A>G	ENSP00000506674.1:p.Gly1832=
ENST00000680766.1:c.5496A>G	ENSP00000505204.1:p.Gly1832=
ENST00000680952.1:c.5496A>G	ENSP00000506407.1:p.Gly1832=
ENST00000681412.1:c.5496A>G	ENSP00000506486.1:p.Gly1832=
ENST00000681722.1:c.5496A>G	ENSP00000506566.1:p.Gly1832=
ENST00000356239.7:c.5496A>G	ENSP00000348573.3:p.Gly1832=
ENST00000358100.6:c.5355A>G	ENSP00000350813.3:p.Gly1785=
ENST00000359028.6:c.5529A>G	ENSP00000351922.3:p.Gly1843=
NM_005751.4:c.5496A>G , LRG_331t1:c.5496A>G	NP_005742.4:p.Gly1832=
NM_147185.2:c.5496A>G	NP_671714.1:p.Gly1832=
XM_006715827.1:c.5355A>G	XP_006715890.1:p.Gly1785=
XM_011515709.1:c.5628A>G	XP_011514011.1:p.Gly1876=
XM_011515710.1:c.5628A>G	XP_011514012.1:p.Gly1876=
XM_011515711.1:c.5592A>G	XP_011514013.1:p.Gly1864=
XM_011515712.1:c.5628A>G	XP_011514014.1:p.Gly1876=
XM_011515713.1:c.5574A>G	XP_011514015.1:p.Gly1858=
XM_011515714.1:c.5628A>G	XP_011514016.1:p.Gly1876=
XM_011515716.1:c.5532A>G	XP_011514018.1:p.Gly1844=
XM_011515717.1:c.5487A>G	XP_011514019.1:p.Gly1829=
XM_011515718.1:c.5532A>G	XP_011514020.1:p.Gly1844=
XM_011515719.1:c.5532A>G	XP_011514021.1:p.Gly1844=
XM_011515720.1:c.5391A>G	XP_011514022.1:p.Gly1797=
XM_017011642.2:c.5592A>G	XP_016867131.1:p.Gly1864=
XM_017011643.2:c.5592A>G	XP_016867132.1:p.Gly1864=
XM_017011644.2:c.5592A>G	XP_016867133.1:p.Gly1864=
XM_017011645.2:c.5538A>G	XP_016867134.1:p.Gly1846=
XM_017011646.2:c.5592A>G	XP_016867135.1:p.Gly1864=
XM_017011647.2:c.5499A>G	XP_016867136.1:p.Gly1833=
XM_017011648.2:c.5496A>G	XP_016867137.1:p.Gly1832=
XM_017011649.2:c.5592A>G	XP_016867138.1:p.Gly1864=
XM_017011650.2:c.5496A>G	XP_016867139.1:p.Gly1832=
XM_017011651.2:c.5451A>G	XP_016867140.1:p.Gly1817=
XM_017011652.2:c.5592A>G	XP_016867141.1:p.Gly1864=
XM_017011653.2:c.5403A>G	XP_016867142.1:p.Gly1801=
XM_017011654.2:c.5355A>G	XP_016867143.1:p.Gly1785=
XM_017011655.2:c.5220A>G	XP_016867144.1:p.Gly1740=
XM_017011656.2:c.5220A>G	XP_016867145.1:p.Gly1740=
XM_017011657.2:c.1257A>G	XP_016867146.1:p.Gly419=
XM_024446631.1:c.5355A>G	XP_024302399.1:p.Gly1785=
NM_147185.3:c.5496A>G	NP_671714.1:p.Gly1832=
NM_005751.5:c.5496A>G MANE Select	NP_005742.4:p.Gly1832=