Canonical Allele Identifier: CA401205738

Gene: SEPTIN9

Linked Data

• MyVariant Identifiers: chr17:g.75398284T>G (hg19) ; chr17:g.77402202T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402202T>G , CM000679.2:g.77402202T>G	GRCh38
NC_000017.10:g.75398284T>G , CM000679.1:g.75398284T>G	GRCh37
NC_000017.9:g.72909879T>G	NCBI36
NG_011683.1:g.125793T>G
NG_011683.2:g.125793T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000329047.13:c.166T>G MANE Plus Clinical	ENSP00000329161.8:p.Ser56Ala
ENST00000427177.6:c.220T>G MANE Select	ENSP00000391249.1:p.Ser74Ala
ENST00000588690.6:c.-273T>G	ENSP00000468668.1:n.-273T>G
ENST00000590294.6:n.269T>G
ENST00000329047.12:c.166T>G	ENSP00000329161.8:p.Ser56Ala
ENST00000423034.6:c.199T>G	ENSP00000405877.1:p.Ser67Ala
ENST00000427177.5:c.220T>G	ENSP00000391249.1:p.Ser74Ala
ENST00000427674.6:c.-273T>G	ENSP00000403194.1:n.-273T>G
ENST00000431235.6:c.-273T>G	ENSP00000406987.2:n.-273T>G
ENST00000449803.6:c.-273T>G	ENSP00000400181.2:n.-273T>G
ENST00000586812.1:n.279T>G
ENST00000587514.1:n.349T>G
ENST00000588575.1:c.37-135T>G	ENSP00000468090.1:n.37-135T>G
ENST00000588690.5:c.-273T>G	ENSP00000468668.1:n.-273T>G
ENST00000589070.1:c.175T>G	ENSP00000465332.1:p.Ser59Ala
ENST00000589140.1:c.175T>G	ENSP00000466997.1:p.Ser59Ala
ENST00000590059.5:c.25-354T>G	ENSP00000466164.1:n.25-354T>G
ENST00000590294.5:c.166T>G	ENSP00000465464.1:p.Ser56Ala
ENST00000590576.5:c.*220T>G	ENSP00000465600.1:n.*220T>G
ENST00000590586.1:n.325T>G
ENST00000590595.1:c.37-135T>G	ENSP00000465026.1:n.37-135T>G
ENST00000590825.1:c.-273T>G	ENSP00000468244.1:n.-273T>G
ENST00000591198.5:c.163T>G	ENSP00000468406.1:p.Ser55Ala
ENST00000591833.5:c.*215T>G	ENSP00000466684.1:n.*215T>G
ENST00000591934.1:c.241T>G	ENSP00000468504.1:p.Ser81Ala
ENST00000592098.1:n.250T>G
ENST00000592420.1:c.-354T>G	ENSP00000467051.1:n.-354T>G
NM_001113491.1:c.220T>G	NP_001106963.1:p.Ser74Ala
NM_001113492.1:c.-273T>G	NP_001106964.1:n.-273T>G
NM_001113493.1:c.199T>G	NP_001106965.1:p.Ser67Ala
NM_001113494.1:c.-273T>G	NP_001106966.1:n.-273T>G
NM_001293695.1:c.163T>G	NP_001280624.1:p.Ser55Ala
NM_006640.4:c.166T>G	NP_006631.2:p.Ser56Ala
XM_006721643.2:c.-273T>G	XP_006721706.1:n.-273T>G
XM_011524204.1:c.313T>G	XP_011522506.1:p.Ser105Ala
XM_011524205.1:c.310T>G	XP_011522507.1:p.Ser104Ala
XM_011524206.1:c.175T>G	XP_011522508.1:p.Ser59Ala
XM_011524207.1:c.-273T>G	XP_011522509.1:n.-273T>G
NM_001113491.2:c.220T>G MANE Select	NP_001106963.1:p.Ser74Ala
NM_001113493.2:c.199T>G	NP_001106965.1:p.Ser67Ala
NM_001293695.2:c.163T>G	NP_001280624.1:p.Ser55Ala
NM_001113492.2:c.-273T>G	NP_001106964.1:n.-273T>G
NM_006640.5:c.166T>G MANE Plus Clinical	NP_006631.2:p.Ser56Ala