Canonical Allele Identifier: CA8793158
Gene: SEPTIN9 HGNC NCBI

Linked Data

dbSNP Id: rs768169396

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.77402247T>C , CM000679.2:g.77402247T>C GRCh38
NC_000017.10:g.75398329T>C , CM000679.1:g.75398329T>C GRCh37
NC_000017.9:g.72909924T>C NCBI36
NG_011683.1:g.125838T>C
NG_011683.2:g.125838T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329047.13:c.211T>C MANE Plus Clinical ENSP00000329161.8:p.Ser71Pro
ENST00000427177.6:c.265T>C MANE Select ENSP00000391249.1:p.Ser89Pro
ENST00000588690.6:c.-228T>C ENSP00000468668.1:n.-228T>C
ENST00000590294.6:n.314T>C
ENST00000329047.12:c.211T>C ENSP00000329161.8:p.Ser71Pro
ENST00000423034.6:c.244T>C ENSP00000405877.1:p.Ser82Pro
ENST00000427177.5:c.265T>C ENSP00000391249.1:p.Ser89Pro
ENST00000427674.6:c.-228T>C ENSP00000403194.1:n.-228T>C
ENST00000431235.6:c.-228T>C ENSP00000406987.2:n.-228T>C
ENST00000449803.6:c.-228T>C ENSP00000400181.2:n.-228T>C
ENST00000586812.1:n.324T>C
ENST00000587514.1:n.394T>C
ENST00000588575.1:c.37-90T>C ENSP00000468090.1:n.37-90T>C
ENST00000588690.5:c.-228T>C ENSP00000468668.1:n.-228T>C
ENST00000589070.1:c.220T>C ENSP00000465332.1:p.Ser74Pro
ENST00000589140.1:c.220T>C ENSP00000466997.1:p.Ser74Pro
ENST00000590059.5:c.25-309T>C ENSP00000466164.1:n.25-309T>C
ENST00000590294.5:c.211T>C ENSP00000465464.1:p.Ser71Pro
ENST00000590576.5:c.*265T>C ENSP00000465600.1:n.*265T>C
ENST00000590586.1:n.370T>C
ENST00000590595.1:c.37-90T>C ENSP00000465026.1:n.37-90T>C
ENST00000590825.1:c.-228T>C ENSP00000468244.1:n.-228T>C
ENST00000591198.5:c.208T>C ENSP00000468406.1:p.Ser70Pro
ENST00000591833.5:c.*260T>C ENSP00000466684.1:n.*260T>C
ENST00000591934.1:c.286T>C ENSP00000468504.1:p.Ser96Pro
ENST00000592098.1:n.295T>C
ENST00000592420.1:c.-309T>C ENSP00000467051.1:n.-309T>C
NM_001113491.1:c.265T>C NP_001106963.1:p.Ser89Pro
NM_001113492.1:c.-228T>C NP_001106964.1:n.-228T>C
NM_001113493.1:c.244T>C NP_001106965.1:p.Ser82Pro
NM_001113494.1:c.-228T>C NP_001106966.1:n.-228T>C
NM_001293695.1:c.208T>C NP_001280624.1:p.Ser70Pro
NM_006640.4:c.211T>C NP_006631.2:p.Ser71Pro
XM_006721643.2:c.-228T>C XP_006721706.1:n.-228T>C
XM_011524204.1:c.358T>C XP_011522506.1:p.Ser120Pro
XM_011524205.1:c.355T>C XP_011522507.1:p.Ser119Pro
XM_011524206.1:c.220T>C XP_011522508.1:p.Ser74Pro
XM_011524207.1:c.-228T>C XP_011522509.1:n.-228T>C
NM_001113491.2:c.265T>C MANE Select NP_001106963.1:p.Ser89Pro
NM_001113493.2:c.244T>C NP_001106965.1:p.Ser82Pro
NM_001293695.2:c.208T>C NP_001280624.1:p.Ser70Pro
NM_001113492.2:c.-228T>C NP_001106964.1:n.-228T>C
NM_006640.5:c.211T>C MANE Plus Clinical NP_006631.2:p.Ser71Pro