Canonical Allele Identifier: CA502069759

Gene: SEPTIN9

Linked Data

• gnomAD v4: 17-77402321-C-T
• MyVariant Identifiers: chr17:g.75398403C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402321C>T , CM000679.2:g.77402321C>T	GRCh38
NC_000017.10:g.75398403C>T , CM000679.1:g.75398403C>T	GRCh37
NC_000017.9:g.72909998C>T	NCBI36
NG_011683.1:g.125912C>T
NG_011683.2:g.125912C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000329047.13:c.285C>T MANE Plus Clinical	ENSP00000329161.8:p.Asp95=
ENST00000427177.6:c.339C>T MANE Select	ENSP00000391249.1:p.Asp113=
ENST00000588690.6:c.-154C>T	ENSP00000468668.1:n.-154C>T
ENST00000590294.6:n.388C>T
ENST00000329047.12:c.285C>T	ENSP00000329161.8:p.Asp95=
ENST00000423034.6:c.318C>T	ENSP00000405877.1:p.Asp106=
ENST00000427177.5:c.339C>T	ENSP00000391249.1:p.Asp113=
ENST00000427674.6:c.-154C>T	ENSP00000403194.1:n.-154C>T
ENST00000431235.6:c.-154C>T	ENSP00000406987.2:n.-154C>T
ENST00000449803.6:c.-154C>T	ENSP00000400181.2:n.-154C>T
ENST00000586812.1:n.398C>T
ENST00000587514.1:n.468C>T
ENST00000588575.1:c.37-16C>T	ENSP00000468090.1:n.37-16C>T
ENST00000588690.5:c.-154C>T	ENSP00000468668.1:n.-154C>T
ENST00000589070.1:c.294C>T	ENSP00000465332.1:p.Asp98=
ENST00000589140.1:c.294C>T	ENSP00000466997.1:p.Asp98=
ENST00000590059.5:c.25-235C>T	ENSP00000466164.1:n.25-235C>T
ENST00000590294.5:c.285C>T	ENSP00000465464.1:p.Asp95=
ENST00000590576.5:c.*339C>T	ENSP00000465600.1:n.*339C>T
ENST00000590586.1:n.444C>T
ENST00000590595.1:c.37-16C>T	ENSP00000465026.1:n.37-16C>T
ENST00000590825.1:c.-154C>T	ENSP00000468244.1:n.-154C>T
ENST00000591198.5:c.282C>T	ENSP00000468406.1:p.Asp94=
ENST00000591833.5:c.*334C>T	ENSP00000466684.1:n.*334C>T
ENST00000591934.1:c.360C>T	ENSP00000468504.1:p.Asp120=
ENST00000592098.1:n.369C>T
ENST00000592420.1:c.-235C>T	ENSP00000467051.1:n.-235C>T
NM_001113491.1:c.339C>T	NP_001106963.1:p.Asp113=
NM_001113492.1:c.-154C>T	NP_001106964.1:n.-154C>T
NM_001113493.1:c.318C>T	NP_001106965.1:p.Asp106=
NM_001113494.1:c.-154C>T	NP_001106966.1:n.-154C>T
NM_001293695.1:c.282C>T	NP_001280624.1:p.Asp94=
NM_006640.4:c.285C>T	NP_006631.2:p.Asp95=
XM_006721643.2:c.-154C>T	XP_006721706.1:n.-154C>T
XM_011524204.1:c.432C>T	XP_011522506.1:p.Asp144=
XM_011524205.1:c.429C>T	XP_011522507.1:p.Asp143=
XM_011524206.1:c.294C>T	XP_011522508.1:p.Asp98=
XM_011524207.1:c.-154C>T	XP_011522509.1:n.-154C>T
NM_001113491.2:c.339C>T MANE Select	NP_001106963.1:p.Asp113=
NM_001113493.2:c.318C>T	NP_001106965.1:p.Asp106=
NM_001293695.2:c.282C>T	NP_001280624.1:p.Asp94=
NM_001113492.2:c.-154C>T	NP_001106964.1:n.-154C>T
NM_006640.5:c.285C>T MANE Plus Clinical	NP_006631.2:p.Asp95=