Canonical Allele Identifier: CA502069670

Gene: SEPTIN9

Linked Data

• MyVariant Identifiers: chr17:g.75398304C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402222C>A , CM000679.2:g.77402222C>A	GRCh38
NC_000017.10:g.75398304C>A , CM000679.1:g.75398304C>A	GRCh37
NC_000017.9:g.72909899C>A	NCBI36
NG_011683.1:g.125813C>A
NG_011683.2:g.125813C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.186C>A MANE Plus Clinical	ENSP00000329161.8:p.Ser62=
ENST00000427177.6:c.240C>A MANE Select	ENSP00000391249.1:p.Ser80=
ENST00000588690.6:c.-253C>A	ENSP00000468668.1:n.-253C>A
ENST00000590294.6:n.289C>A
ENST00000329047.12:c.186C>A	ENSP00000329161.8:p.Ser62=
ENST00000423034.6:c.219C>A	ENSP00000405877.1:p.Ser73=
ENST00000427177.5:c.240C>A	ENSP00000391249.1:p.Ser80=
ENST00000427674.6:c.-253C>A	ENSP00000403194.1:n.-253C>A
ENST00000431235.6:c.-253C>A	ENSP00000406987.2:n.-253C>A
ENST00000449803.6:c.-253C>A	ENSP00000400181.2:n.-253C>A
ENST00000586812.1:n.299C>A
ENST00000587514.1:n.369C>A
ENST00000588575.1:c.37-115C>A	ENSP00000468090.1:n.37-115C>A
ENST00000588690.5:c.-253C>A	ENSP00000468668.1:n.-253C>A
ENST00000589070.1:c.195C>A	ENSP00000465332.1:p.Ser65=
ENST00000589140.1:c.195C>A	ENSP00000466997.1:p.Ser65=
ENST00000590059.5:c.25-334C>A	ENSP00000466164.1:n.25-334C>A
ENST00000590294.5:c.186C>A	ENSP00000465464.1:p.Ser62=
ENST00000590576.5:c.*240C>A	ENSP00000465600.1:n.*240C>A
ENST00000590586.1:n.345C>A
ENST00000590595.1:c.37-115C>A	ENSP00000465026.1:n.37-115C>A
ENST00000590825.1:c.-253C>A	ENSP00000468244.1:n.-253C>A
ENST00000591198.5:c.183C>A	ENSP00000468406.1:p.Ser61=
ENST00000591833.5:c.*235C>A	ENSP00000466684.1:n.*235C>A
ENST00000591934.1:c.261C>A	ENSP00000468504.1:p.Ser87=
ENST00000592098.1:n.270C>A
ENST00000592420.1:c.-334C>A	ENSP00000467051.1:n.-334C>A
NM_001113491.1:c.240C>A	NP_001106963.1:p.Ser80=
NM_001113492.1:c.-253C>A	NP_001106964.1:n.-253C>A
NM_001113493.1:c.219C>A	NP_001106965.1:p.Ser73=
NM_001113494.1:c.-253C>A	NP_001106966.1:n.-253C>A
NM_001293695.1:c.183C>A	NP_001280624.1:p.Ser61=
NM_006640.4:c.186C>A	NP_006631.2:p.Ser62=
XM_006721643.2:c.-253C>A	XP_006721706.1:n.-253C>A
XM_011524204.1:c.333C>A	XP_011522506.1:p.Ser111=
XM_011524205.1:c.330C>A	XP_011522507.1:p.Ser110=
XM_011524206.1:c.195C>A	XP_011522508.1:p.Ser65=
XM_011524207.1:c.-253C>A	XP_011522509.1:n.-253C>A
NM_001113491.2:c.240C>A MANE Select	NP_001106963.1:p.Ser80=
NM_001113493.2:c.219C>A	NP_001106965.1:p.Ser73=
NM_001293695.2:c.183C>A	NP_001280624.1:p.Ser61=
NM_001113492.2:c.-253C>A	NP_001106964.1:n.-253C>A
NM_006640.5:c.186C>A MANE Plus Clinical	NP_006631.2:p.Ser62=