Canonical Allele Identifier: CA401205786

Gene: SEPTIN9

Linked Data

• MyVariant Identifiers: chr17:g.75398309G>C (hg19) ; chr17:g.77402227G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402227G>C , CM000679.2:g.77402227G>C	GRCh38
NC_000017.10:g.75398309G>C , CM000679.1:g.75398309G>C	GRCh37
NC_000017.9:g.72909904G>C	NCBI36
NG_011683.1:g.125818G>C
NG_011683.2:g.125818G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.191G>C MANE Plus Clinical	ENSP00000329161.8:p.Ser64Thr
ENST00000427177.6:c.245G>C MANE Select	ENSP00000391249.1:p.Ser82Thr
ENST00000588690.6:c.-248G>C	ENSP00000468668.1:n.-248G>C
ENST00000590294.6:n.294G>C
ENST00000329047.12:c.191G>C	ENSP00000329161.8:p.Ser64Thr
ENST00000423034.6:c.224G>C	ENSP00000405877.1:p.Ser75Thr
ENST00000427177.5:c.245G>C	ENSP00000391249.1:p.Ser82Thr
ENST00000427674.6:c.-248G>C	ENSP00000403194.1:n.-248G>C
ENST00000431235.6:c.-248G>C	ENSP00000406987.2:n.-248G>C
ENST00000449803.6:c.-248G>C	ENSP00000400181.2:n.-248G>C
ENST00000586812.1:n.304G>C
ENST00000587514.1:n.374G>C
ENST00000588575.1:c.37-110G>C	ENSP00000468090.1:n.37-110G>C
ENST00000588690.5:c.-248G>C	ENSP00000468668.1:n.-248G>C
ENST00000589070.1:c.200G>C	ENSP00000465332.1:p.Ser67Thr
ENST00000589140.1:c.200G>C	ENSP00000466997.1:p.Ser67Thr
ENST00000590059.5:c.25-329G>C	ENSP00000466164.1:n.25-329G>C
ENST00000590294.5:c.191G>C	ENSP00000465464.1:p.Ser64Thr
ENST00000590576.5:c.*245G>C	ENSP00000465600.1:n.*245G>C
ENST00000590586.1:n.350G>C
ENST00000590595.1:c.37-110G>C	ENSP00000465026.1:n.37-110G>C
ENST00000590825.1:c.-248G>C	ENSP00000468244.1:n.-248G>C
ENST00000591198.5:c.188G>C	ENSP00000468406.1:p.Ser63Thr
ENST00000591833.5:c.*240G>C	ENSP00000466684.1:n.*240G>C
ENST00000591934.1:c.266G>C	ENSP00000468504.1:p.Ser89Thr
ENST00000592098.1:n.275G>C
ENST00000592420.1:c.-329G>C	ENSP00000467051.1:n.-329G>C
NM_001113491.1:c.245G>C	NP_001106963.1:p.Ser82Thr
NM_001113492.1:c.-248G>C	NP_001106964.1:n.-248G>C
NM_001113493.1:c.224G>C	NP_001106965.1:p.Ser75Thr
NM_001113494.1:c.-248G>C	NP_001106966.1:n.-248G>C
NM_001293695.1:c.188G>C	NP_001280624.1:p.Ser63Thr
NM_006640.4:c.191G>C	NP_006631.2:p.Ser64Thr
XM_006721643.2:c.-248G>C	XP_006721706.1:n.-248G>C
XM_011524204.1:c.338G>C	XP_011522506.1:p.Ser113Thr
XM_011524205.1:c.335G>C	XP_011522507.1:p.Ser112Thr
XM_011524206.1:c.200G>C	XP_011522508.1:p.Ser67Thr
XM_011524207.1:c.-248G>C	XP_011522509.1:n.-248G>C
NM_001113491.2:c.245G>C MANE Select	NP_001106963.1:p.Ser82Thr
NM_001113493.2:c.224G>C	NP_001106965.1:p.Ser75Thr
NM_001293695.2:c.188G>C	NP_001280624.1:p.Ser63Thr
NM_001113492.2:c.-248G>C	NP_001106964.1:n.-248G>C
NM_006640.5:c.191G>C MANE Plus Clinical	NP_006631.2:p.Ser64Thr