Canonical Allele Identifier: CA401208054

Gene: SEPTIN9

Linked Data

• gnomAD v4: 17-77482323-A-T
• MyVariant Identifiers: chr17:g.75478405A>T (hg19) ; chr17:g.77482323A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77482323A>T , CM000679.2:g.77482323A>T	GRCh38
NC_000017.10:g.75478405A>T , CM000679.1:g.75478405A>T	GRCh37
NC_000017.9:g.72990000A>T	NCBI36
NG_011683.1:g.205914A>T
NG_011683.2:g.205914A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.847A>T MANE Plus Clinical	ENSP00000329161.8:p.Ile283Phe
ENST00000427177.6:c.901A>T MANE Select	ENSP00000391249.1:p.Ile301Phe
ENST00000588690.6:c.409A>T	ENSP00000468668.1:p.Ile137Phe
ENST00000589250.6:n.205A>T
ENST00000590294.6:n.950A>T
ENST00000592481.6:c.148A>T	ENSP00000502589.1:p.Ile50Phe
ENST00000329047.12:c.847A>T	ENSP00000329161.8:p.Ile283Phe
ENST00000423034.6:c.880A>T	ENSP00000405877.1:p.Ile294Phe
ENST00000427177.5:c.901A>T	ENSP00000391249.1:p.Ile301Phe
ENST00000427180.5:c.565A>T	ENSP00000415624.1:p.Ile189Phe
ENST00000427674.6:c.409A>T	ENSP00000403194.1:p.Ile137Phe
ENST00000431235.6:c.409A>T	ENSP00000406987.2:p.Ile137Phe
ENST00000449803.6:c.409A>T	ENSP00000400181.2:p.Ile137Phe
ENST00000541152.6:c.148A>T	ENSP00000438089.2:p.Ile50Phe
ENST00000585638.1:c.148A>T	ENSP00000466115.1:p.Ile50Phe
ENST00000585929.5:c.148A>T	ENSP00000467780.1:p.Ile50Phe
ENST00000585930.5:c.229A>T	ENSP00000468120.1:p.Ile77Phe
ENST00000586128.5:c.148A>T	ENSP00000467792.1:p.Ile50Phe
ENST00000586433.5:c.148A>T	ENSP00000468110.1:p.Ile50Phe
ENST00000586521.5:c.148A>T	ENSP00000466170.1:p.Ile50Phe
ENST00000588575.1:c.196-5159A>T	ENSP00000468090.1:n.196-5159A>T
ENST00000588690.5:c.409A>T	ENSP00000468668.1:p.Ile137Phe
ENST00000588958.6:c.148A>T	ENSP00000464832.1:p.Ile50Phe
ENST00000589920.5:c.148A>T	ENSP00000466532.1:p.Ile50Phe
ENST00000590059.5:c.352A>T	ENSP00000466164.1:p.Ile118Phe
ENST00000590294.5:c.847A>T	ENSP00000465464.1:p.Ile283Phe
ENST00000590917.5:c.148A>T	ENSP00000467619.1:p.Ile50Phe
ENST00000590938.5:c.148A>T	ENSP00000466201.1:p.Ile50Phe
ENST00000591020.5:c.148A>T	ENSP00000467908.1:p.Ile50Phe
ENST00000591088.5:c.148A>T	ENSP00000466247.1:p.Ile50Phe
ENST00000591198.5:c.844A>T	ENSP00000468406.1:p.Ile282Phe
ENST00000591472.6:c.148A>T	ENSP00000468410.2:p.Ile50Phe
ENST00000591704.5:c.148A>T	ENSP00000465415.1:p.Ile50Phe
ENST00000592420.1:c.328A>T	ENSP00000467051.1:p.Ile110Phe
ENST00000592481.5:n.465A>T
ENST00000592951.5:c.148A>T	ENSP00000466648.1:p.Ile50Phe
ENST00000593189.6:c.148A>T	ENSP00000465904.1:p.Ile50Phe
NM_001113491.1:c.901A>T	NP_001106963.1:p.Ile301Phe
NM_001113492.1:c.409A>T	NP_001106964.1:p.Ile137Phe
NM_001113493.1:c.880A>T	NP_001106965.1:p.Ile294Phe
NM_001113494.1:c.409A>T	NP_001106966.1:p.Ile137Phe
NM_001113495.1:c.565A>T	NP_001106967.1:p.Ile189Phe
NM_001113496.1:c.148A>T	NP_001106968.1:p.Ile50Phe
NM_001293695.1:c.844A>T	NP_001280624.1:p.Ile282Phe
NM_001293696.1:c.229A>T	NP_001280625.1:p.Ile77Phe
NM_001293697.1:c.148A>T	NP_001280626.1:p.Ile50Phe
NM_001293698.1:c.148A>T	NP_001280627.1:p.Ile50Phe
NM_006640.4:c.847A>T	NP_006631.2:p.Ile283Phe
XM_005256962.1:c.148A>T	XP_005257019.1:p.Ile50Phe
XM_006721643.2:c.409A>T	XP_006721706.1:p.Ile137Phe
XM_006721644.1:c.148A>T	XP_006721707.1:p.Ile50Phe
XM_011524204.1:c.994A>T	XP_011522506.1:p.Ile332Phe
XM_011524205.1:c.991A>T	XP_011522507.1:p.Ile331Phe
XM_011524206.1:c.856A>T	XP_011522508.1:p.Ile286Phe
XM_011524207.1:c.409A>T	XP_011522509.1:p.Ile137Phe
XM_011524208.1:c.148A>T	XP_011522510.1:p.Ile50Phe
XM_011524209.1:c.148A>T	XP_011522511.1:p.Ile50Phe
NM_001113491.2:c.901A>T MANE Select	NP_001106963.1:p.Ile301Phe
NM_001113493.2:c.880A>T	NP_001106965.1:p.Ile294Phe
NM_001113496.2:c.148A>T	NP_001106968.1:p.Ile50Phe
NM_001293695.2:c.844A>T	NP_001280624.1:p.Ile282Phe
NM_001293696.2:c.229A>T	NP_001280625.1:p.Ile77Phe
NM_001293697.2:c.148A>T	NP_001280626.1:p.Ile50Phe
NM_001293698.2:c.148A>T	NP_001280627.1:p.Ile50Phe
NM_001113492.2:c.409A>T	NP_001106964.1:p.Ile137Phe
NM_001113495.2:c.148A>T	NP_001106967.2:p.Ile50Phe
NM_006640.5:c.847A>T MANE Plus Clinical	NP_006631.2:p.Ile283Phe