Canonical Allele Identifier: CA401205729

Gene: SEPTIN9

Linked Data

• ClinVar Variation Id: 694894
• ClinVar RCV Id: RCV000857023
• dbSNP Id: rs760234906
• MyVariant Identifiers: chr17:g.75398280A>C (hg19) ; chr17:g.77402198A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402198A>C , CM000679.2:g.77402198A>C	GRCh38
NC_000017.10:g.75398280A>C , CM000679.1:g.75398280A>C	GRCh37
NC_000017.9:g.72909875A>C	NCBI36
NG_011683.1:g.125789A>C
NG_011683.2:g.125789A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000329047.13:c.162A>C MANE Plus Clinical	ENSP00000329161.8:p.Glu54Asp
ENST00000427177.6:c.216A>C MANE Select	ENSP00000391249.1:p.Glu72Asp
ENST00000588690.6:c.-277A>C	ENSP00000468668.1:n.-277A>C
ENST00000590294.6:n.265A>C
ENST00000329047.12:c.162A>C	ENSP00000329161.8:p.Glu54Asp
ENST00000423034.6:c.195A>C	ENSP00000405877.1:p.Glu65Asp
ENST00000427177.5:c.216A>C	ENSP00000391249.1:p.Glu72Asp
ENST00000427674.6:c.-277A>C	ENSP00000403194.1:n.-277A>C
ENST00000431235.6:c.-277A>C	ENSP00000406987.2:n.-277A>C
ENST00000449803.6:c.-277A>C	ENSP00000400181.2:n.-277A>C
ENST00000586812.1:n.275A>C
ENST00000587237.1:n.546A>C
ENST00000587514.1:n.345A>C
ENST00000588575.1:c.37-139A>C	ENSP00000468090.1:n.37-139A>C
ENST00000588690.5:c.-277A>C	ENSP00000468668.1:n.-277A>C
ENST00000589070.1:c.171A>C	ENSP00000465332.1:p.Glu57Asp
ENST00000589140.1:c.171A>C	ENSP00000466997.1:p.Glu57Asp
ENST00000590059.5:c.25-358A>C	ENSP00000466164.1:n.25-358A>C
ENST00000590294.5:c.162A>C	ENSP00000465464.1:p.Glu54Asp
ENST00000590576.5:c.*216A>C	ENSP00000465600.1:n.*216A>C
ENST00000590586.1:n.321A>C
ENST00000590595.1:c.37-139A>C	ENSP00000465026.1:n.37-139A>C
ENST00000590825.1:c.-277A>C	ENSP00000468244.1:n.-277A>C
ENST00000591198.5:c.159A>C	ENSP00000468406.1:p.Glu53Asp
ENST00000591833.5:c.*211A>C	ENSP00000466684.1:n.*211A>C
ENST00000591934.1:c.237A>C	ENSP00000468504.1:p.Glu79Asp
ENST00000592098.1:n.246A>C
ENST00000592420.1:c.-358A>C	ENSP00000467051.1:n.-358A>C
NM_001113491.1:c.216A>C	NP_001106963.1:p.Glu72Asp
NM_001113492.1:c.-277A>C	NP_001106964.1:n.-277A>C
NM_001113493.1:c.195A>C	NP_001106965.1:p.Glu65Asp
NM_001113494.1:c.-277A>C	NP_001106966.1:n.-277A>C
NM_001293695.1:c.159A>C	NP_001280624.1:p.Glu53Asp
NM_006640.4:c.162A>C	NP_006631.2:p.Glu54Asp
XM_006721643.2:c.-277A>C	XP_006721706.1:n.-277A>C
XM_011524204.1:c.309A>C	XP_011522506.1:p.Glu103Asp
XM_011524205.1:c.306A>C	XP_011522507.1:p.Glu102Asp
XM_011524206.1:c.171A>C	XP_011522508.1:p.Glu57Asp
XM_011524207.1:c.-277A>C	XP_011522509.1:n.-277A>C
NM_001113491.2:c.216A>C MANE Select	NP_001106963.1:p.Glu72Asp
NM_001113493.2:c.195A>C	NP_001106965.1:p.Glu65Asp
NM_001293695.2:c.159A>C	NP_001280624.1:p.Glu53Asp
NM_001113492.2:c.-277A>C	NP_001106964.1:n.-277A>C
NM_006640.5:c.162A>C MANE Plus Clinical	NP_006631.2:p.Glu54Asp