Canonical Allele Identifier: CA401208043

Gene: SEPTIN9

Linked Data

• gnomAD v4: 17-77482319-C-A
• MyVariant Identifiers: chr17:g.75478401C>A (hg19) ; chr17:g.77482319C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77482319C>A , CM000679.2:g.77482319C>A	GRCh38
NC_000017.10:g.75478401C>A , CM000679.1:g.75478401C>A	GRCh37
NC_000017.9:g.72989996C>A	NCBI36
NG_011683.1:g.205910C>A
NG_011683.2:g.205910C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.843C>A MANE Plus Clinical	ENSP00000329161.8:p.Phe281Leu
ENST00000427177.6:c.897C>A MANE Select	ENSP00000391249.1:p.Phe299Leu
ENST00000588690.6:c.405C>A	ENSP00000468668.1:p.Phe135Leu
ENST00000589250.6:n.201C>A
ENST00000590294.6:n.946C>A
ENST00000592481.6:c.144C>A	ENSP00000502589.1:p.Phe48Leu
ENST00000329047.12:c.843C>A	ENSP00000329161.8:p.Phe281Leu
ENST00000423034.6:c.876C>A	ENSP00000405877.1:p.Phe292Leu
ENST00000427177.5:c.897C>A	ENSP00000391249.1:p.Phe299Leu
ENST00000427180.5:c.561C>A	ENSP00000415624.1:p.Phe187Leu
ENST00000427674.6:c.405C>A	ENSP00000403194.1:p.Phe135Leu
ENST00000431235.6:c.405C>A	ENSP00000406987.2:p.Phe135Leu
ENST00000449803.6:c.405C>A	ENSP00000400181.2:p.Phe135Leu
ENST00000541152.6:c.144C>A	ENSP00000438089.2:p.Phe48Leu
ENST00000585638.1:c.144C>A	ENSP00000466115.1:p.Phe48Leu
ENST00000585929.5:c.144C>A	ENSP00000467780.1:p.Phe48Leu
ENST00000585930.5:c.225C>A	ENSP00000468120.1:p.Phe75Leu
ENST00000586128.5:c.144C>A	ENSP00000467792.1:p.Phe48Leu
ENST00000586433.5:c.144C>A	ENSP00000468110.1:p.Phe48Leu
ENST00000586521.5:c.144C>A	ENSP00000466170.1:p.Phe48Leu
ENST00000588575.1:c.196-5163C>A	ENSP00000468090.1:n.196-5163C>A
ENST00000588690.5:c.405C>A	ENSP00000468668.1:p.Phe135Leu
ENST00000588958.6:c.144C>A	ENSP00000464832.1:p.Phe48Leu
ENST00000589920.5:c.144C>A	ENSP00000466532.1:p.Phe48Leu
ENST00000590059.5:c.348C>A	ENSP00000466164.1:p.Phe116Leu
ENST00000590294.5:c.843C>A	ENSP00000465464.1:p.Phe281Leu
ENST00000590917.5:c.144C>A	ENSP00000467619.1:p.Phe48Leu
ENST00000590938.5:c.144C>A	ENSP00000466201.1:p.Phe48Leu
ENST00000591020.5:c.144C>A	ENSP00000467908.1:p.Phe48Leu
ENST00000591088.5:c.144C>A	ENSP00000466247.1:p.Phe48Leu
ENST00000591198.5:c.840C>A	ENSP00000468406.1:p.Phe280Leu
ENST00000591472.6:c.144C>A	ENSP00000468410.2:p.Phe48Leu
ENST00000591704.5:c.144C>A	ENSP00000465415.1:p.Phe48Leu
ENST00000592420.1:c.324C>A	ENSP00000467051.1:p.Phe108Leu
ENST00000592481.5:n.461C>A
ENST00000592951.5:c.144C>A	ENSP00000466648.1:p.Phe48Leu
ENST00000593189.6:c.144C>A	ENSP00000465904.1:p.Phe48Leu
NM_001113491.1:c.897C>A	NP_001106963.1:p.Phe299Leu
NM_001113492.1:c.405C>A	NP_001106964.1:p.Phe135Leu
NM_001113493.1:c.876C>A	NP_001106965.1:p.Phe292Leu
NM_001113494.1:c.405C>A	NP_001106966.1:p.Phe135Leu
NM_001113495.1:c.561C>A	NP_001106967.1:p.Phe187Leu
NM_001113496.1:c.144C>A	NP_001106968.1:p.Phe48Leu
NM_001293695.1:c.840C>A	NP_001280624.1:p.Phe280Leu
NM_001293696.1:c.225C>A	NP_001280625.1:p.Phe75Leu
NM_001293697.1:c.144C>A	NP_001280626.1:p.Phe48Leu
NM_001293698.1:c.144C>A	NP_001280627.1:p.Phe48Leu
NM_006640.4:c.843C>A	NP_006631.2:p.Phe281Leu
XM_005256962.1:c.144C>A	XP_005257019.1:p.Phe48Leu
XM_006721643.2:c.405C>A	XP_006721706.1:p.Phe135Leu
XM_006721644.1:c.144C>A	XP_006721707.1:p.Phe48Leu
XM_011524204.1:c.990C>A	XP_011522506.1:p.Phe330Leu
XM_011524205.1:c.987C>A	XP_011522507.1:p.Phe329Leu
XM_011524206.1:c.852C>A	XP_011522508.1:p.Phe284Leu
XM_011524207.1:c.405C>A	XP_011522509.1:p.Phe135Leu
XM_011524208.1:c.144C>A	XP_011522510.1:p.Phe48Leu
XM_011524209.1:c.144C>A	XP_011522511.1:p.Phe48Leu
NM_001113491.2:c.897C>A MANE Select	NP_001106963.1:p.Phe299Leu
NM_001113493.2:c.876C>A	NP_001106965.1:p.Phe292Leu
NM_001113496.2:c.144C>A	NP_001106968.1:p.Phe48Leu
NM_001293695.2:c.840C>A	NP_001280624.1:p.Phe280Leu
NM_001293696.2:c.225C>A	NP_001280625.1:p.Phe75Leu
NM_001293697.2:c.144C>A	NP_001280626.1:p.Phe48Leu
NM_001293698.2:c.144C>A	NP_001280627.1:p.Phe48Leu
NM_001113492.2:c.405C>A	NP_001106964.1:p.Phe135Leu
NM_001113495.2:c.144C>A	NP_001106967.2:p.Phe48Leu
NM_006640.5:c.843C>A MANE Plus Clinical	NP_006631.2:p.Phe281Leu