Canonical Allele Identifier: CA502069664

Gene: SEPTIN9

Linked Data

• gnomAD v4: 17-77402216-G-A
• MyVariant Identifiers: chr17:g.75398298G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402216G>A , CM000679.2:g.77402216G>A	GRCh38
NC_000017.10:g.75398298G>A , CM000679.1:g.75398298G>A	GRCh37
NC_000017.9:g.72909893G>A	NCBI36
NG_011683.1:g.125807G>A
NG_011683.2:g.125807G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.180G>A MANE Plus Clinical	ENSP00000329161.8:p.Val60=
ENST00000427177.6:c.234G>A MANE Select	ENSP00000391249.1:p.Val78=
ENST00000588690.6:c.-259G>A	ENSP00000468668.1:n.-259G>A
ENST00000590294.6:n.283G>A
ENST00000329047.12:c.180G>A	ENSP00000329161.8:p.Val60=
ENST00000423034.6:c.213G>A	ENSP00000405877.1:p.Val71=
ENST00000427177.5:c.234G>A	ENSP00000391249.1:p.Val78=
ENST00000427674.6:c.-259G>A	ENSP00000403194.1:n.-259G>A
ENST00000431235.6:c.-259G>A	ENSP00000406987.2:n.-259G>A
ENST00000449803.6:c.-259G>A	ENSP00000400181.2:n.-259G>A
ENST00000586812.1:n.293G>A
ENST00000587514.1:n.363G>A
ENST00000588575.1:c.37-121G>A	ENSP00000468090.1:n.37-121G>A
ENST00000588690.5:c.-259G>A	ENSP00000468668.1:n.-259G>A
ENST00000589070.1:c.189G>A	ENSP00000465332.1:p.Val63=
ENST00000589140.1:c.189G>A	ENSP00000466997.1:p.Val63=
ENST00000590059.5:c.25-340G>A	ENSP00000466164.1:n.25-340G>A
ENST00000590294.5:c.180G>A	ENSP00000465464.1:p.Val60=
ENST00000590576.5:c.*234G>A	ENSP00000465600.1:n.*234G>A
ENST00000590586.1:n.339G>A
ENST00000590595.1:c.37-121G>A	ENSP00000465026.1:n.37-121G>A
ENST00000590825.1:c.-259G>A	ENSP00000468244.1:n.-259G>A
ENST00000591198.5:c.177G>A	ENSP00000468406.1:p.Val59=
ENST00000591833.5:c.*229G>A	ENSP00000466684.1:n.*229G>A
ENST00000591934.1:c.255G>A	ENSP00000468504.1:p.Val85=
ENST00000592098.1:n.264G>A
ENST00000592420.1:c.-340G>A	ENSP00000467051.1:n.-340G>A
NM_001113491.1:c.234G>A	NP_001106963.1:p.Val78=
NM_001113492.1:c.-259G>A	NP_001106964.1:n.-259G>A
NM_001113493.1:c.213G>A	NP_001106965.1:p.Val71=
NM_001113494.1:c.-259G>A	NP_001106966.1:n.-259G>A
NM_001293695.1:c.177G>A	NP_001280624.1:p.Val59=
NM_006640.4:c.180G>A	NP_006631.2:p.Val60=
XM_006721643.2:c.-259G>A	XP_006721706.1:n.-259G>A
XM_011524204.1:c.327G>A	XP_011522506.1:p.Val109=
XM_011524205.1:c.324G>A	XP_011522507.1:p.Val108=
XM_011524206.1:c.189G>A	XP_011522508.1:p.Val63=
XM_011524207.1:c.-259G>A	XP_011522509.1:n.-259G>A
NM_001113491.2:c.234G>A MANE Select	NP_001106963.1:p.Val78=
NM_001113493.2:c.213G>A	NP_001106965.1:p.Val71=
NM_001293695.2:c.177G>A	NP_001280624.1:p.Val59=
NM_001113492.2:c.-259G>A	NP_001106964.1:n.-259G>A
NM_006640.5:c.180G>A MANE Plus Clinical	NP_006631.2:p.Val60=