Canonical Allele Identifier: CA401205959

Gene: SEPTIN9

Linked Data

• gnomAD v4: 17-77402319-G-T
• MyVariant Identifiers: chr17:g.75398401G>T (hg19) ; chr17:g.77402319G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402319G>T , CM000679.2:g.77402319G>T	GRCh38
NC_000017.10:g.75398401G>T , CM000679.1:g.75398401G>T	GRCh37
NC_000017.9:g.72909996G>T	NCBI36
NG_011683.1:g.125910G>T
NG_011683.2:g.125910G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000329047.13:c.283G>T MANE Plus Clinical	ENSP00000329161.8:p.Asp95Tyr
ENST00000427177.6:c.337G>T MANE Select	ENSP00000391249.1:p.Asp113Tyr
ENST00000588690.6:c.-156G>T	ENSP00000468668.1:n.-156G>T
ENST00000590294.6:n.386G>T
ENST00000329047.12:c.283G>T	ENSP00000329161.8:p.Asp95Tyr
ENST00000423034.6:c.316G>T	ENSP00000405877.1:p.Asp106Tyr
ENST00000427177.5:c.337G>T	ENSP00000391249.1:p.Asp113Tyr
ENST00000427674.6:c.-156G>T	ENSP00000403194.1:n.-156G>T
ENST00000431235.6:c.-156G>T	ENSP00000406987.2:n.-156G>T
ENST00000449803.6:c.-156G>T	ENSP00000400181.2:n.-156G>T
ENST00000586812.1:n.396G>T
ENST00000587514.1:n.466G>T
ENST00000588575.1:c.37-18G>T	ENSP00000468090.1:n.37-18G>T
ENST00000588690.5:c.-156G>T	ENSP00000468668.1:n.-156G>T
ENST00000589070.1:c.292G>T	ENSP00000465332.1:p.Asp98Tyr
ENST00000589140.1:c.292G>T	ENSP00000466997.1:p.Asp98Tyr
ENST00000590059.5:c.25-237G>T	ENSP00000466164.1:n.25-237G>T
ENST00000590294.5:c.283G>T	ENSP00000465464.1:p.Asp95Tyr
ENST00000590576.5:c.*337G>T	ENSP00000465600.1:n.*337G>T
ENST00000590586.1:n.442G>T
ENST00000590595.1:c.37-18G>T	ENSP00000465026.1:n.37-18G>T
ENST00000590825.1:c.-156G>T	ENSP00000468244.1:n.-156G>T
ENST00000591198.5:c.280G>T	ENSP00000468406.1:p.Asp94Tyr
ENST00000591833.5:c.*332G>T	ENSP00000466684.1:n.*332G>T
ENST00000591934.1:c.358G>T	ENSP00000468504.1:p.Asp120Tyr
ENST00000592098.1:n.367G>T
ENST00000592420.1:c.-237G>T	ENSP00000467051.1:n.-237G>T
NM_001113491.1:c.337G>T	NP_001106963.1:p.Asp113Tyr
NM_001113492.1:c.-156G>T	NP_001106964.1:n.-156G>T
NM_001113493.1:c.316G>T	NP_001106965.1:p.Asp106Tyr
NM_001113494.1:c.-156G>T	NP_001106966.1:n.-156G>T
NM_001293695.1:c.280G>T	NP_001280624.1:p.Asp94Tyr
NM_006640.4:c.283G>T	NP_006631.2:p.Asp95Tyr
XM_006721643.2:c.-156G>T	XP_006721706.1:n.-156G>T
XM_011524204.1:c.430G>T	XP_011522506.1:p.Asp144Tyr
XM_011524205.1:c.427G>T	XP_011522507.1:p.Asp143Tyr
XM_011524206.1:c.292G>T	XP_011522508.1:p.Asp98Tyr
XM_011524207.1:c.-156G>T	XP_011522509.1:n.-156G>T
NM_001113491.2:c.337G>T MANE Select	NP_001106963.1:p.Asp113Tyr
NM_001113493.2:c.316G>T	NP_001106965.1:p.Asp106Tyr
NM_001293695.2:c.280G>T	NP_001280624.1:p.Asp94Tyr
NM_001113492.2:c.-156G>T	NP_001106964.1:n.-156G>T
NM_006640.5:c.283G>T MANE Plus Clinical	NP_006631.2:p.Asp95Tyr