Canonical Allele Identifier: CA401205670

Gene: SEPTIN9

Linked Data

• MyVariant Identifiers: chr17:g.75398253C>G (hg19) ; chr17:g.77402171C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402171C>G , CM000679.2:g.77402171C>G	GRCh38
NC_000017.10:g.75398253C>G , CM000679.1:g.75398253C>G	GRCh37
NC_000017.9:g.72909848C>G	NCBI36
NG_011683.1:g.125762C>G
NG_011683.2:g.125762C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.135C>G MANE Plus Clinical	ENSP00000329161.8:p.Phe45Leu
ENST00000427177.6:c.189C>G MANE Select	ENSP00000391249.1:p.Phe63Leu
ENST00000588690.6:c.-304C>G	ENSP00000468668.1:n.-304C>G
ENST00000590294.6:n.238C>G
ENST00000329047.12:c.135C>G	ENSP00000329161.8:p.Phe45Leu
ENST00000423034.6:c.168C>G	ENSP00000405877.1:p.Phe56Leu
ENST00000427177.5:c.189C>G	ENSP00000391249.1:p.Phe63Leu
ENST00000427674.6:c.-304C>G	ENSP00000403194.1:n.-304C>G
ENST00000431235.6:c.-304C>G	ENSP00000406987.2:n.-304C>G
ENST00000449803.6:c.-304C>G	ENSP00000400181.2:n.-304C>G
ENST00000586812.1:n.248C>G
ENST00000587237.1:n.519C>G
ENST00000587514.1:n.318C>G
ENST00000588575.1:c.37-166C>G	ENSP00000468090.1:n.37-166C>G
ENST00000588690.5:c.-304C>G	ENSP00000468668.1:n.-304C>G
ENST00000589070.1:c.144C>G	ENSP00000465332.1:p.Phe48Leu
ENST00000589140.1:c.144C>G	ENSP00000466997.1:p.Phe48Leu
ENST00000590059.5:c.25-385C>G	ENSP00000466164.1:n.25-385C>G
ENST00000590294.5:c.135C>G	ENSP00000465464.1:p.Phe45Leu
ENST00000590576.5:c.*189C>G	ENSP00000465600.1:n.*189C>G
ENST00000590586.1:n.294C>G
ENST00000590595.1:c.37-166C>G	ENSP00000465026.1:n.37-166C>G
ENST00000590825.1:c.-304C>G	ENSP00000468244.1:n.-304C>G
ENST00000591198.5:c.132C>G	ENSP00000468406.1:p.Phe44Leu
ENST00000591833.5:c.*184C>G	ENSP00000466684.1:n.*184C>G
ENST00000591934.1:c.210C>G	ENSP00000468504.1:p.Phe70Leu
ENST00000592098.1:n.219C>G
ENST00000592420.1:c.-385C>G	ENSP00000467051.1:n.-385C>G
NM_001113491.1:c.189C>G	NP_001106963.1:p.Phe63Leu
NM_001113492.1:c.-304C>G	NP_001106964.1:n.-304C>G
NM_001113493.1:c.168C>G	NP_001106965.1:p.Phe56Leu
NM_001113494.1:c.-304C>G	NP_001106966.1:n.-304C>G
NM_001293695.1:c.132C>G	NP_001280624.1:p.Phe44Leu
NM_006640.4:c.135C>G	NP_006631.2:p.Phe45Leu
XM_006721643.2:c.-304C>G	XP_006721706.1:n.-304C>G
XM_011524204.1:c.282C>G	XP_011522506.1:p.Phe94Leu
XM_011524205.1:c.279C>G	XP_011522507.1:p.Phe93Leu
XM_011524206.1:c.144C>G	XP_011522508.1:p.Phe48Leu
XM_011524207.1:c.-304C>G	XP_011522509.1:n.-304C>G
NM_001113491.2:c.189C>G MANE Select	NP_001106963.1:p.Phe63Leu
NM_001113493.2:c.168C>G	NP_001106965.1:p.Phe56Leu
NM_001293695.2:c.132C>G	NP_001280624.1:p.Phe44Leu
NM_001113492.2:c.-304C>G	NP_001106964.1:n.-304C>G
NM_006640.5:c.135C>G MANE Plus Clinical	NP_006631.2:p.Phe45Leu