Canonical Allele Identifier: CA401206114

Gene: SEPTIN9

Linked Data

• MyVariant Identifiers: chr17:g.75398477T>C (hg19) ; chr17:g.77402395T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402395T>C , CM000679.2:g.77402395T>C	GRCh38
NC_000017.10:g.75398477T>C , CM000679.1:g.75398477T>C	GRCh37
NC_000017.9:g.72910072T>C	NCBI36
NG_011683.1:g.125986T>C
NG_011683.2:g.125986T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.359T>C MANE Plus Clinical	ENSP00000329161.8:p.Leu120Ser
ENST00000427177.6:c.413T>C MANE Select	ENSP00000391249.1:p.Leu138Ser
ENST00000588690.6:c.-80T>C	ENSP00000468668.1:n.-80T>C
ENST00000590294.6:n.462T>C
ENST00000329047.12:c.359T>C	ENSP00000329161.8:p.Leu120Ser
ENST00000423034.6:c.392T>C	ENSP00000405877.1:p.Leu131Ser
ENST00000427177.5:c.413T>C	ENSP00000391249.1:p.Leu138Ser
ENST00000427674.6:c.-80T>C	ENSP00000403194.1:n.-80T>C
ENST00000431235.6:c.-80T>C	ENSP00000406987.2:n.-80T>C
ENST00000449803.6:c.-80T>C	ENSP00000400181.2:n.-80T>C
ENST00000588575.1:c.95T>C	ENSP00000468090.1:p.Leu32Ser
ENST00000588690.5:c.-80T>C	ENSP00000468668.1:n.-80T>C
ENST00000589070.1:c.368T>C	ENSP00000465332.1:p.Leu123Ser
ENST00000589140.1:c.368T>C	ENSP00000466997.1:p.Leu123Ser
ENST00000590059.5:c.25-161T>C	ENSP00000466164.1:n.25-161T>C
ENST00000590294.5:c.359T>C	ENSP00000465464.1:p.Leu120Ser
ENST00000590576.5:c.*413T>C	ENSP00000465600.1:n.*413T>C
ENST00000590586.1:n.518T>C
ENST00000590595.1:c.95T>C	ENSP00000465026.1:p.Leu32Ser
ENST00000590825.1:c.-80T>C	ENSP00000468244.1:n.-80T>C
ENST00000591198.5:c.356T>C	ENSP00000468406.1:p.Leu119Ser
ENST00000591934.1:c.434T>C	ENSP00000468504.1:p.Leu145Ser
ENST00000592098.1:n.443T>C
ENST00000592420.1:c.-161T>C	ENSP00000467051.1:n.-161T>C
NM_001113491.1:c.413T>C	NP_001106963.1:p.Leu138Ser
NM_001113492.1:c.-80T>C	NP_001106964.1:n.-80T>C
NM_001113493.1:c.392T>C	NP_001106965.1:p.Leu131Ser
NM_001113494.1:c.-80T>C	NP_001106966.1:n.-80T>C
NM_001293695.1:c.356T>C	NP_001280624.1:p.Leu119Ser
NM_006640.4:c.359T>C	NP_006631.2:p.Leu120Ser
XM_006721643.2:c.-80T>C	XP_006721706.1:n.-80T>C
XM_011524204.1:c.506T>C	XP_011522506.1:p.Leu169Ser
XM_011524205.1:c.503T>C	XP_011522507.1:p.Leu168Ser
XM_011524206.1:c.368T>C	XP_011522508.1:p.Leu123Ser
XM_011524207.1:c.-80T>C	XP_011522509.1:n.-80T>C
NM_001113491.2:c.413T>C MANE Select	NP_001106963.1:p.Leu138Ser
NM_001113493.2:c.392T>C	NP_001106965.1:p.Leu131Ser
NM_001293695.2:c.356T>C	NP_001280624.1:p.Leu119Ser
NM_001113492.2:c.-80T>C	NP_001106964.1:n.-80T>C
NM_006640.5:c.359T>C MANE Plus Clinical	NP_006631.2:p.Leu120Ser