Canonical Allele Identifier: CA401205717

Gene: SEPTIN9

Linked Data

• MyVariant Identifiers: chr17:g.75398275T>A (hg19) ; chr17:g.77402193T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402193T>A , CM000679.2:g.77402193T>A	GRCh38
NC_000017.10:g.75398275T>A , CM000679.1:g.75398275T>A	GRCh37
NC_000017.9:g.72909870T>A	NCBI36
NG_011683.1:g.125784T>A
NG_011683.2:g.125784T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.157T>A MANE Plus Clinical	ENSP00000329161.8:p.Ser53Thr
ENST00000427177.6:c.211T>A MANE Select	ENSP00000391249.1:p.Ser71Thr
ENST00000588690.6:c.-282T>A	ENSP00000468668.1:n.-282T>A
ENST00000590294.6:n.260T>A
ENST00000329047.12:c.157T>A	ENSP00000329161.8:p.Ser53Thr
ENST00000423034.6:c.190T>A	ENSP00000405877.1:p.Ser64Thr
ENST00000427177.5:c.211T>A	ENSP00000391249.1:p.Ser71Thr
ENST00000427674.6:c.-282T>A	ENSP00000403194.1:n.-282T>A
ENST00000431235.6:c.-282T>A	ENSP00000406987.2:n.-282T>A
ENST00000449803.6:c.-282T>A	ENSP00000400181.2:n.-282T>A
ENST00000586812.1:n.270T>A
ENST00000587237.1:n.541T>A
ENST00000587514.1:n.340T>A
ENST00000588575.1:c.37-144T>A	ENSP00000468090.1:n.37-144T>A
ENST00000588690.5:c.-282T>A	ENSP00000468668.1:n.-282T>A
ENST00000589070.1:c.166T>A	ENSP00000465332.1:p.Ser56Thr
ENST00000589140.1:c.166T>A	ENSP00000466997.1:p.Ser56Thr
ENST00000590059.5:c.25-363T>A	ENSP00000466164.1:n.25-363T>A
ENST00000590294.5:c.157T>A	ENSP00000465464.1:p.Ser53Thr
ENST00000590576.5:c.*211T>A	ENSP00000465600.1:n.*211T>A
ENST00000590586.1:n.316T>A
ENST00000590595.1:c.37-144T>A	ENSP00000465026.1:n.37-144T>A
ENST00000590825.1:c.-282T>A	ENSP00000468244.1:n.-282T>A
ENST00000591198.5:c.154T>A	ENSP00000468406.1:p.Ser52Thr
ENST00000591833.5:c.*206T>A	ENSP00000466684.1:n.*206T>A
ENST00000591934.1:c.232T>A	ENSP00000468504.1:p.Ser78Thr
ENST00000592098.1:n.241T>A
ENST00000592420.1:c.-363T>A	ENSP00000467051.1:n.-363T>A
NM_001113491.1:c.211T>A	NP_001106963.1:p.Ser71Thr
NM_001113492.1:c.-282T>A	NP_001106964.1:n.-282T>A
NM_001113493.1:c.190T>A	NP_001106965.1:p.Ser64Thr
NM_001113494.1:c.-282T>A	NP_001106966.1:n.-282T>A
NM_001293695.1:c.154T>A	NP_001280624.1:p.Ser52Thr
NM_006640.4:c.157T>A	NP_006631.2:p.Ser53Thr
XM_006721643.2:c.-282T>A	XP_006721706.1:n.-282T>A
XM_011524204.1:c.304T>A	XP_011522506.1:p.Ser102Thr
XM_011524205.1:c.301T>A	XP_011522507.1:p.Ser101Thr
XM_011524206.1:c.166T>A	XP_011522508.1:p.Ser56Thr
XM_011524207.1:c.-282T>A	XP_011522509.1:n.-282T>A
NM_001113491.2:c.211T>A MANE Select	NP_001106963.1:p.Ser71Thr
NM_001113493.2:c.190T>A	NP_001106965.1:p.Ser64Thr
NM_001293695.2:c.154T>A	NP_001280624.1:p.Ser52Thr
NM_001113492.2:c.-282T>A	NP_001106964.1:n.-282T>A
NM_006640.5:c.157T>A MANE Plus Clinical	NP_006631.2:p.Ser53Thr