Canonical Allele Identifier: CA401205745

Gene: SEPTIN9

Linked Data

• dbSNP Id: rs2035923133
• gnomAD v3: 17-77402206-C-T
• gnomAD v4: 17-77402206-C-T
• MyVariant Identifiers: chr17:g.75398288C>T (hg19) ; chr17:g.77402206C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402206C>T , CM000679.2:g.77402206C>T	GRCh38
NC_000017.10:g.75398288C>T , CM000679.1:g.75398288C>T	GRCh37
NC_000017.9:g.72909883C>T	NCBI36
NG_011683.1:g.125797C>T
NG_011683.2:g.125797C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000329047.13:c.170C>T MANE Plus Clinical	ENSP00000329161.8:p.Ala57Val
ENST00000427177.6:c.224C>T MANE Select	ENSP00000391249.1:p.Ala75Val
ENST00000588690.6:c.-269C>T	ENSP00000468668.1:n.-269C>T
ENST00000590294.6:n.273C>T
ENST00000329047.12:c.170C>T	ENSP00000329161.8:p.Ala57Val
ENST00000423034.6:c.203C>T	ENSP00000405877.1:p.Ala68Val
ENST00000427177.5:c.224C>T	ENSP00000391249.1:p.Ala75Val
ENST00000427674.6:c.-269C>T	ENSP00000403194.1:n.-269C>T
ENST00000431235.6:c.-269C>T	ENSP00000406987.2:n.-269C>T
ENST00000449803.6:c.-269C>T	ENSP00000400181.2:n.-269C>T
ENST00000586812.1:n.283C>T
ENST00000587514.1:n.353C>T
ENST00000588575.1:c.37-131C>T	ENSP00000468090.1:n.37-131C>T
ENST00000588690.5:c.-269C>T	ENSP00000468668.1:n.-269C>T
ENST00000589070.1:c.179C>T	ENSP00000465332.1:p.Ala60Val
ENST00000589140.1:c.179C>T	ENSP00000466997.1:p.Ala60Val
ENST00000590059.5:c.25-350C>T	ENSP00000466164.1:n.25-350C>T
ENST00000590294.5:c.170C>T	ENSP00000465464.1:p.Ala57Val
ENST00000590576.5:c.*224C>T	ENSP00000465600.1:n.*224C>T
ENST00000590586.1:n.329C>T
ENST00000590595.1:c.37-131C>T	ENSP00000465026.1:n.37-131C>T
ENST00000590825.1:c.-269C>T	ENSP00000468244.1:n.-269C>T
ENST00000591198.5:c.167C>T	ENSP00000468406.1:p.Ala56Val
ENST00000591833.5:c.*219C>T	ENSP00000466684.1:n.*219C>T
ENST00000591934.1:c.245C>T	ENSP00000468504.1:p.Ala82Val
ENST00000592098.1:n.254C>T
ENST00000592420.1:c.-350C>T	ENSP00000467051.1:n.-350C>T
NM_001113491.1:c.224C>T	NP_001106963.1:p.Ala75Val
NM_001113492.1:c.-269C>T	NP_001106964.1:n.-269C>T
NM_001113493.1:c.203C>T	NP_001106965.1:p.Ala68Val
NM_001113494.1:c.-269C>T	NP_001106966.1:n.-269C>T
NM_001293695.1:c.167C>T	NP_001280624.1:p.Ala56Val
NM_006640.4:c.170C>T	NP_006631.2:p.Ala57Val
XM_006721643.2:c.-269C>T	XP_006721706.1:n.-269C>T
XM_011524204.1:c.317C>T	XP_011522506.1:p.Ala106Val
XM_011524205.1:c.314C>T	XP_011522507.1:p.Ala105Val
XM_011524206.1:c.179C>T	XP_011522508.1:p.Ala60Val
XM_011524207.1:c.-269C>T	XP_011522509.1:n.-269C>T
NM_001113491.2:c.224C>T MANE Select	NP_001106963.1:p.Ala75Val
NM_001113493.2:c.203C>T	NP_001106965.1:p.Ala68Val
NM_001293695.2:c.167C>T	NP_001280624.1:p.Ala56Val
NM_001113492.2:c.-269C>T	NP_001106964.1:n.-269C>T
NM_006640.5:c.170C>T MANE Plus Clinical	NP_006631.2:p.Ala57Val