Canonical Allele Identifier: CA401208330

Gene: SEPTIN9

Linked Data

• gnomAD v4: 17-77482453-A-C
• MyVariant Identifiers: chr17:g.75478535A>C (hg19) ; chr17:g.77482453A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77482453A>C , CM000679.2:g.77482453A>C	GRCh38
NC_000017.10:g.75478535A>C , CM000679.1:g.75478535A>C	GRCh37
NC_000017.9:g.72990130A>C	NCBI36
NG_011683.1:g.206044A>C
NG_011683.2:g.206044A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.859+118A>C MANE Plus Clinical	ENSP00000329161.8:n.859+118A>C
ENST00000427177.6:c.913+118A>C MANE Select	ENSP00000391249.1:n.913+118A>C
ENST00000588690.6:c.421+118A>C	ENSP00000468668.1:n.421+118A>C
ENST00000589250.6:n.217+118A>C
ENST00000590294.6:n.962+118A>C
ENST00000592481.6:c.160+118A>C	ENSP00000502589.1:n.160+118A>C
ENST00000329047.12:c.859+118A>C	ENSP00000329161.8:n.859+118A>C
ENST00000423034.6:c.892+118A>C	ENSP00000405877.1:n.892+118A>C
ENST00000427177.5:c.913+118A>C	ENSP00000391249.1:n.913+118A>C
ENST00000427180.5:c.577+118A>C	ENSP00000415624.1:n.577+118A>C
ENST00000427674.6:c.421+118A>C	ENSP00000403194.1:n.421+118A>C
ENST00000431235.6:c.421+118A>C	ENSP00000406987.2:n.421+118A>C
ENST00000449803.6:c.421+118A>C	ENSP00000400181.2:n.421+118A>C
ENST00000541152.6:c.160+118A>C	ENSP00000438089.2:n.160+118A>C
ENST00000585638.1:c.160+118A>C	ENSP00000466115.1:n.160+118A>C
ENST00000585929.5:c.160+118A>C	ENSP00000467780.1:n.160+118A>C
ENST00000585930.5:c.241+118A>C	ENSP00000468120.1:n.241+118A>C
ENST00000586128.5:c.160+118A>C	ENSP00000467792.1:n.160+118A>C
ENST00000586433.5:c.160+118A>C	ENSP00000468110.1:n.160+118A>C
ENST00000586521.5:c.160+118A>C	ENSP00000466170.1:n.160+118A>C
ENST00000588575.1:c.196-5029A>C	ENSP00000468090.1:n.196-5029A>C
ENST00000588690.5:c.421+118A>C	ENSP00000468668.1:n.421+118A>C
ENST00000588958.6:c.160+118A>C	ENSP00000464832.1:n.160+118A>C
ENST00000589920.5:c.160+118A>C	ENSP00000466532.1:n.160+118A>C
ENST00000590059.5:c.364+118A>C	ENSP00000466164.1:n.364+118A>C
ENST00000590294.5:c.859+118A>C	ENSP00000465464.1:n.859+118A>C
ENST00000590917.5:c.160+118A>C	ENSP00000467619.1:n.160+118A>C
ENST00000590938.5:c.160+118A>C	ENSP00000466201.1:n.160+118A>C
ENST00000591020.5:c.160+118A>C	ENSP00000467908.1:n.160+118A>C
ENST00000591088.5:c.160+118A>C	ENSP00000466247.1:n.160+118A>C
ENST00000591198.5:c.856+118A>C	ENSP00000468406.1:n.856+118A>C
ENST00000591472.6:c.160+118A>C	ENSP00000468410.2:n.160+118A>C
ENST00000591704.5:c.160+118A>C	ENSP00000465415.1:n.160+118A>C
ENST00000592420.1:c.458A>C	ENSP00000467051.1:p.Asp153Ala
ENST00000592481.5:n.477+118A>C
ENST00000592951.5:c.160+118A>C	ENSP00000466648.1:n.160+118A>C
ENST00000593189.6:c.160+118A>C	ENSP00000465904.1:n.160+118A>C
NM_001113491.1:c.913+118A>C	NP_001106963.1:n.913+118A>C
NM_001113492.1:c.421+118A>C	NP_001106964.1:n.421+118A>C
NM_001113493.1:c.892+118A>C	NP_001106965.1:n.892+118A>C
NM_001113494.1:c.421+118A>C	NP_001106966.1:n.421+118A>C
NM_001113495.1:c.577+118A>C	NP_001106967.1:n.577+118A>C
NM_001113496.1:c.160+118A>C	NP_001106968.1:n.160+118A>C
NM_001293695.1:c.856+118A>C	NP_001280624.1:n.856+118A>C
NM_001293696.1:c.241+118A>C	NP_001280625.1:n.241+118A>C
NM_001293697.1:c.160+118A>C	NP_001280626.1:n.160+118A>C
NM_001293698.1:c.160+118A>C	NP_001280627.1:n.160+118A>C
NM_006640.4:c.859+118A>C	NP_006631.2:n.859+118A>C
XM_005256962.1:c.160+118A>C	XP_005257019.1:n.160+118A>C
XM_006721643.2:c.421+118A>C	XP_006721706.1:n.421+118A>C
XM_006721644.1:c.160+118A>C	XP_006721707.1:n.160+118A>C
XM_011524204.1:c.1006+118A>C	XP_011522506.1:n.1006+118A>C
XM_011524205.1:c.1003+118A>C	XP_011522507.1:n.1003+118A>C
XM_011524206.1:c.868+118A>C	XP_011522508.1:n.868+118A>C
XM_011524207.1:c.421+118A>C	XP_011522509.1:n.421+118A>C
XM_011524208.1:c.160+118A>C	XP_011522510.1:n.160+118A>C
XM_011524209.1:c.160+118A>C	XP_011522511.1:n.160+118A>C
NM_001113491.2:c.913+118A>C MANE Select	NP_001106963.1:n.913+118A>C
NM_001113493.2:c.892+118A>C	NP_001106965.1:n.892+118A>C
NM_001113496.2:c.160+118A>C	NP_001106968.1:n.160+118A>C
NM_001293695.2:c.856+118A>C	NP_001280624.1:n.856+118A>C
NM_001293696.2:c.241+118A>C	NP_001280625.1:n.241+118A>C
NM_001293697.2:c.160+118A>C	NP_001280626.1:n.160+118A>C
NM_001293698.2:c.160+118A>C	NP_001280627.1:n.160+118A>C
NM_001113492.2:c.421+118A>C	NP_001106964.1:n.421+118A>C
NM_001113495.2:c.160+118A>C	NP_001106967.2:n.160+118A>C
NM_006640.5:c.859+118A>C MANE Plus Clinical	NP_006631.2:n.859+118A>C