Canonical Allele Identifier: CA502069668

Gene: SEPTIN9

Linked Data

• MyVariant Identifiers: chr17:g.75398283C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402201C>G , CM000679.2:g.77402201C>G	GRCh38
NC_000017.10:g.75398283C>G , CM000679.1:g.75398283C>G	GRCh37
NC_000017.9:g.72909878C>G	NCBI36
NG_011683.1:g.125792C>G
NG_011683.2:g.125792C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000329047.13:c.165C>G MANE Plus Clinical	ENSP00000329161.8:p.Pro55=
ENST00000427177.6:c.219C>G MANE Select	ENSP00000391249.1:p.Pro73=
ENST00000588690.6:c.-274C>G	ENSP00000468668.1:n.-274C>G
ENST00000590294.6:n.268C>G
ENST00000329047.12:c.165C>G	ENSP00000329161.8:p.Pro55=
ENST00000423034.6:c.198C>G	ENSP00000405877.1:p.Pro66=
ENST00000427177.5:c.219C>G	ENSP00000391249.1:p.Pro73=
ENST00000427674.6:c.-274C>G	ENSP00000403194.1:n.-274C>G
ENST00000431235.6:c.-274C>G	ENSP00000406987.2:n.-274C>G
ENST00000449803.6:c.-274C>G	ENSP00000400181.2:n.-274C>G
ENST00000586812.1:n.278C>G
ENST00000587514.1:n.348C>G
ENST00000588575.1:c.37-136C>G	ENSP00000468090.1:n.37-136C>G
ENST00000588690.5:c.-274C>G	ENSP00000468668.1:n.-274C>G
ENST00000589070.1:c.174C>G	ENSP00000465332.1:p.Pro58=
ENST00000589140.1:c.174C>G	ENSP00000466997.1:p.Pro58=
ENST00000590059.5:c.25-355C>G	ENSP00000466164.1:n.25-355C>G
ENST00000590294.5:c.165C>G	ENSP00000465464.1:p.Pro55=
ENST00000590576.5:c.*219C>G	ENSP00000465600.1:n.*219C>G
ENST00000590586.1:n.324C>G
ENST00000590595.1:c.37-136C>G	ENSP00000465026.1:n.37-136C>G
ENST00000590825.1:c.-274C>G	ENSP00000468244.1:n.-274C>G
ENST00000591198.5:c.162C>G	ENSP00000468406.1:p.Pro54=
ENST00000591833.5:c.*214C>G	ENSP00000466684.1:n.*214C>G
ENST00000591934.1:c.240C>G	ENSP00000468504.1:p.Pro80=
ENST00000592098.1:n.249C>G
ENST00000592420.1:c.-355C>G	ENSP00000467051.1:n.-355C>G
NM_001113491.1:c.219C>G	NP_001106963.1:p.Pro73=
NM_001113492.1:c.-274C>G	NP_001106964.1:n.-274C>G
NM_001113493.1:c.198C>G	NP_001106965.1:p.Pro66=
NM_001113494.1:c.-274C>G	NP_001106966.1:n.-274C>G
NM_001293695.1:c.162C>G	NP_001280624.1:p.Pro54=
NM_006640.4:c.165C>G	NP_006631.2:p.Pro55=
XM_006721643.2:c.-274C>G	XP_006721706.1:n.-274C>G
XM_011524204.1:c.312C>G	XP_011522506.1:p.Pro104=
XM_011524205.1:c.309C>G	XP_011522507.1:p.Pro103=
XM_011524206.1:c.174C>G	XP_011522508.1:p.Pro58=
XM_011524207.1:c.-274C>G	XP_011522509.1:n.-274C>G
NM_001113491.2:c.219C>G MANE Select	NP_001106963.1:p.Pro73=
NM_001113493.2:c.198C>G	NP_001106965.1:p.Pro66=
NM_001293695.2:c.162C>G	NP_001280624.1:p.Pro54=
NM_001113492.2:c.-274C>G	NP_001106964.1:n.-274C>G
NM_006640.5:c.165C>G MANE Plus Clinical	NP_006631.2:p.Pro55=