Canonical Allele Identifier: CA10626496

Gene: AKAP9

Linked Data

• ClinVar Variation Id: 360823
• ClinVar RCV Id: RCV000331936 ; RCV001850916
• dbSNP Id: rs886062472
• gnomAD v4: 7-92022274-T-C
• MyVariant Identifiers: chr7:g.91651588T>C (hg19) ; chr7:g.92022274T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92022274T>C , CM000669.2:g.92022274T>C	GRCh38
NC_000007.13:g.91651588T>C , CM000669.1:g.91651588T>C	GRCh37
NC_000007.12:g.91489524T>C	NCBI36
NG_011623.1:g.86400T>C , LRG_331:g.86400T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356239.8:c.3874T>C MANE Select	ENSP00000348573.3:p.Phe1292Leu
ENST00000359028.7:c.3874T>C	ENSP00000351922.4:p.Phe1292Leu
ENST00000674381.2:c.*3603T>C	ENSP00000501536.2:n.*3603T>C
ENST00000679448.1:c.3874T>C	ENSP00000505889.1:p.Phe1292Leu
ENST00000679457.1:c.3874T>C	ENSP00000505450.1:p.Phe1292Leu
ENST00000679474.1:n.4096T>C
ENST00000679521.1:c.3820T>C	ENSP00000505456.1:p.Phe1274Leu
ENST00000679554.1:c.*3659T>C	ENSP00000506415.1:n.*3659T>C
ENST00000679722.1:n.4096T>C
ENST00000679821.1:c.3616T>C	ENSP00000506040.1:p.Phe1206Leu
ENST00000680047.1:n.4096T>C
ENST00000680072.1:c.3874T>C	ENSP00000506581.1:p.Phe1292Leu
ENST00000680074.1:n.4096T>C
ENST00000680181.1:c.3874T>C	ENSP00000505548.1:p.Phe1292Leu
ENST00000680513.1:c.3874T>C	ENSP00000505284.1:p.Phe1292Leu
ENST00000680534.1:c.3874T>C	ENSP00000506674.1:p.Phe1292Leu
ENST00000680766.1:c.3874T>C	ENSP00000505204.1:p.Phe1292Leu
ENST00000680952.1:c.3874T>C	ENSP00000506407.1:p.Phe1292Leu
ENST00000681412.1:c.3874T>C	ENSP00000506486.1:p.Phe1292Leu
ENST00000681722.1:c.3874T>C	ENSP00000506566.1:p.Phe1292Leu
ENST00000356239.7:c.3874T>C	ENSP00000348573.3:p.Phe1292Leu
ENST00000358100.6:c.3874T>C	ENSP00000350813.3:p.Phe1292Leu
ENST00000359028.6:c.3907T>C	ENSP00000351922.3:p.Phe1303Leu
ENST00000493453.1:n.4094T>C
ENST00000619023.4:c.3898T>C	ENSP00000480807.1:p.Phe1300Leu
NM_005751.4:c.3874T>C , LRG_331t1:c.3874T>C	NP_005742.4:p.Phe1292Leu
NM_147185.2:c.3874T>C	NP_671714.1:p.Phe1292Leu
XM_006715827.1:c.3874T>C	XP_006715890.1:p.Phe1292Leu
XM_011515709.1:c.3910T>C	XP_011514011.1:p.Phe1304Leu
XM_011515710.1:c.3910T>C	XP_011514012.1:p.Phe1304Leu
XM_011515711.1:c.3874T>C	XP_011514013.1:p.Phe1292Leu
XM_011515712.1:c.3910T>C	XP_011514014.1:p.Phe1304Leu
XM_011515713.1:c.3856T>C	XP_011514015.1:p.Phe1286Leu
XM_011515714.1:c.3910T>C	XP_011514016.1:p.Phe1304Leu
XM_011515716.1:c.3910T>C	XP_011514018.1:p.Phe1304Leu
XM_011515717.1:c.3910T>C	XP_011514019.1:p.Phe1304Leu
XM_011515718.1:c.3910T>C	XP_011514020.1:p.Phe1304Leu
XM_011515719.1:c.3910T>C	XP_011514021.1:p.Phe1304Leu
XM_011515720.1:c.3910T>C	XP_011514022.1:p.Phe1304Leu
XM_017011642.2:c.3874T>C	XP_016867131.1:p.Phe1292Leu
XM_017011643.2:c.3874T>C	XP_016867132.1:p.Phe1292Leu
XM_017011644.2:c.3874T>C	XP_016867133.1:p.Phe1292Leu
XM_017011645.2:c.3820T>C	XP_016867134.1:p.Phe1274Leu
XM_017011646.2:c.3874T>C	XP_016867135.1:p.Phe1292Leu
XM_017011647.2:c.3874T>C	XP_016867136.1:p.Phe1292Leu
XM_017011648.2:c.3874T>C	XP_016867137.1:p.Phe1292Leu
XM_017011649.2:c.3874T>C	XP_016867138.1:p.Phe1292Leu
XM_017011650.2:c.3874T>C	XP_016867139.1:p.Phe1292Leu
XM_017011651.2:c.3874T>C	XP_016867140.1:p.Phe1292Leu
XM_017011652.2:c.3874T>C	XP_016867141.1:p.Phe1292Leu
XM_017011653.2:c.3874T>C	XP_016867142.1:p.Phe1292Leu
XM_017011654.2:c.3874T>C	XP_016867143.1:p.Phe1292Leu
XM_017011655.2:c.3502T>C	XP_016867144.1:p.Phe1168Leu
XM_017011656.2:c.3502T>C	XP_016867145.1:p.Phe1168Leu
XM_024446631.1:c.3874T>C	XP_024302399.1:p.Phe1292Leu
NM_147185.3:c.3874T>C	NP_671714.1:p.Phe1292Leu
NM_005751.5:c.3874T>C MANE Select	NP_005742.4:p.Phe1292Leu