Canonical Allele Identifier: CA8793914

Gene: SEPTIN9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77498596G>A , CM000679.2:g.77498596G>A	GRCh38
NC_000017.10:g.75494678G>A , CM000679.1:g.75494678G>A	GRCh37
NC_000017.9:g.73006273G>A	NCBI36
NG_011683.1:g.222187G>A
NG_011683.2:g.222187G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001113491.2:c.1699G>A MANE Select	NP_001106963.1:p.Glu567Lys
ENST00000427177.6:c.1699G>A MANE Select	ENSP00000391249.1:p.Glu567Lys
NM_006640.5:c.1645G>A MANE Plus Clinical	NP_006631.2:p.Glu549Lys
ENST00000329047.13:c.1645G>A MANE Plus Clinical	ENSP00000329161.8:p.Glu549Lys
NM_001113491.1:c.1699G>A	NP_001106963.1:p.Glu567Lys
NM_001113492.1:c.1207G>A	NP_001106964.1:p.Glu403Lys
NM_001113492.2:c.1207G>A	NP_001106964.1:p.Glu403Lys
NM_001113493.1:c.1678G>A	NP_001106965.1:p.Glu560Lys
NM_001113493.2:c.1678G>A	NP_001106965.1:p.Glu560Lys
NM_001113494.1:c.1207G>A	NP_001106966.1:p.Glu403Lys
NM_001113495.1:c.1363G>A	NP_001106967.1:p.Glu455Lys
NM_001113495.2:c.946G>A	NP_001106967.2:p.Glu316Lys
NM_001113496.1:c.946G>A	NP_001106968.1:p.Glu316Lys
NM_001113496.2:c.946G>A	NP_001106968.1:p.Glu316Lys
NM_001293695.1:c.1642G>A	NP_001280624.1:p.Glu548Lys
NM_001293695.2:c.1642G>A	NP_001280624.1:p.Glu548Lys
NM_001293696.1:c.1027G>A	NP_001280625.1:p.Glu343Lys
NM_001293696.2:c.1027G>A	NP_001280625.1:p.Glu343Lys
NM_001293697.1:c.946G>A	NP_001280626.1:p.Glu316Lys
NM_001293697.2:c.946G>A	NP_001280626.1:p.Glu316Lys
NM_001293698.1:c.946G>A	NP_001280627.1:p.Glu316Lys
NM_001293698.2:c.946G>A	NP_001280627.1:p.Glu316Lys
NM_006640.4:c.1645G>A	NP_006631.2:p.Glu549Lys
ENST00000329047.12:c.1645G>A	ENSP00000329161.8:p.Glu549Lys
ENST00000423034.6:c.1678G>A	ENSP00000405877.1:p.Glu560Lys
ENST00000427177.5:c.1699G>A	ENSP00000391249.1:p.Glu567Lys
ENST00000427180.5:c.1363G>A	ENSP00000415624.1:p.Glu455Lys
ENST00000427674.6:c.1207G>A	ENSP00000403194.1:p.Glu403Lys
ENST00000431235.6:c.1207G>A	ENSP00000406987.2:p.Glu403Lys
ENST00000449803.6:c.1207G>A	ENSP00000400181.2:p.Glu403Lys
ENST00000541152.6:c.946G>A	ENSP00000438089.2:p.Glu316Lys
ENST00000585930.5:c.1027G>A	ENSP00000468120.1:p.Glu343Lys
ENST00000588690.5:c.1207G>A	ENSP00000468668.1:p.Glu403Lys
ENST00000588690.6:c.1207G>A	ENSP00000468668.1:p.Glu403Lys
ENST00000589246.1:n.366G>A
ENST00000590294.5:c.1645G>A	ENSP00000465464.1:p.Glu549Lys
ENST00000591088.5:c.946G>A	ENSP00000466247.1:p.Glu316Lys
ENST00000591198.5:c.1642G>A	ENSP00000468406.1:p.Glu548Lys
ENST00000592951.5:c.946G>A	ENSP00000466648.1:p.Glu316Lys
XM_005256962.1:c.946G>A	XP_005257019.1:p.Glu316Lys
XM_006721643.2:c.1207G>A	XP_006721706.1:p.Glu403Lys
XM_006721644.1:c.946G>A	XP_006721707.1:p.Glu316Lys
XM_011524204.1:c.1792G>A	XP_011522506.1:p.Glu598Lys
XM_011524205.1:c.1789G>A	XP_011522507.1:p.Glu597Lys
XM_011524206.1:c.1654G>A	XP_011522508.1:p.Glu552Lys
XM_011524207.1:c.1207G>A	XP_011522509.1:p.Glu403Lys
XM_011524208.1:c.946G>A	XP_011522510.1:p.Glu316Lys
XM_011524209.1:c.946G>A	XP_011522511.1:p.Glu316Lys