Canonical Allele Identifier: CA8793133

Gene: SEPTIN9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402128C>A , CM000679.2:g.77402128C>A	GRCh38
NC_000017.10:g.75398210C>A , CM000679.1:g.75398210C>A	GRCh37
NC_000017.9:g.72909805C>A	NCBI36
NG_011683.1:g.125719C>A
NG_011683.2:g.125719C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001113491.2:c.146C>A MANE Select	NP_001106963.1:p.Thr49Asn
ENST00000427177.6:c.146C>A MANE Select	ENSP00000391249.1:p.Thr49Asn
NM_006640.5:c.92C>A MANE Plus Clinical	NP_006631.2:p.Thr31Asn
ENST00000329047.13:c.92C>A MANE Plus Clinical	ENSP00000329161.8:p.Thr31Asn
NM_001113491.1:c.146C>A	NP_001106963.1:p.Thr49Asn
NM_001113492.1:c.-347C>A	NP_001106964.1:n.-347C>A
NM_001113492.2:c.-347C>A	NP_001106964.1:n.-347C>A
NM_001113493.1:c.125C>A	NP_001106965.1:p.Thr42Asn
NM_001113493.2:c.125C>A	NP_001106965.1:p.Thr42Asn
NM_001113494.1:c.-347C>A	NP_001106966.1:n.-347C>A
NM_001293695.1:c.89C>A	NP_001280624.1:p.Thr30Asn
NM_001293695.2:c.89C>A	NP_001280624.1:p.Thr30Asn
NM_006640.4:c.92C>A	NP_006631.2:p.Thr31Asn
ENST00000329047.12:c.92C>A	ENSP00000329161.8:p.Thr31Asn
ENST00000423034.6:c.125C>A	ENSP00000405877.1:p.Thr42Asn
ENST00000427177.5:c.146C>A	ENSP00000391249.1:p.Thr49Asn
ENST00000427674.6:c.-347C>A	ENSP00000403194.1:n.-347C>A
ENST00000431235.6:c.-347C>A	ENSP00000406987.2:n.-347C>A
ENST00000449803.6:c.-347C>A	ENSP00000400181.2:n.-347C>A
ENST00000586812.1:n.205C>A
ENST00000587237.1:n.476C>A
ENST00000587514.1:n.275C>A
ENST00000588575.1:c.37-209C>A	ENSP00000468090.1:n.37-209C>A
ENST00000588690.5:c.-347C>A	ENSP00000468668.1:n.-347C>A
ENST00000588690.6:c.-347C>A	ENSP00000468668.1:n.-347C>A
ENST00000589070.1:c.101C>A	ENSP00000465332.1:p.Thr34Asn
ENST00000589140.1:c.101C>A	ENSP00000466997.1:p.Thr34Asn
ENST00000590059.5:c.25-428C>A	ENSP00000466164.1:n.25-428C>A
ENST00000590294.5:c.92C>A	ENSP00000465464.1:p.Thr31Asn
ENST00000590294.6:n.195C>A
ENST00000590576.5:c.*146C>A	ENSP00000465600.1:n.*146C>A
ENST00000590586.1:n.251C>A
ENST00000590595.1:c.37-209C>A	ENSP00000465026.1:n.37-209C>A
ENST00000590825.1:c.-347C>A	ENSP00000468244.1:n.-347C>A
ENST00000591198.5:c.89C>A	ENSP00000468406.1:p.Thr30Asn
ENST00000591833.5:c.*141C>A	ENSP00000466684.1:n.*141C>A
ENST00000591934.1:c.167C>A	ENSP00000468504.1:p.Thr56Asn
ENST00000592098.1:n.176C>A
ENST00000592420.1:c.-428C>A	ENSP00000467051.1:n.-428C>A
XM_006721643.2:c.-347C>A	XP_006721706.1:n.-347C>A
XM_011524204.1:c.239C>A	XP_011522506.1:p.Thr80Asn
XM_011524205.1:c.236C>A	XP_011522507.1:p.Thr79Asn
XM_011524206.1:c.101C>A	XP_011522508.1:p.Thr34Asn
XM_011524207.1:c.-347C>A	XP_011522509.1:n.-347C>A