Canonical Allele Identifier: CA401206047

Gene: SEPTIN9

Linked Data

• MyVariant Identifiers: chr17:g.75398443C>G (hg19) ; chr17:g.77402361C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402361C>G , CM000679.2:g.77402361C>G	GRCh38
NC_000017.10:g.75398443C>G , CM000679.1:g.75398443C>G	GRCh37
NC_000017.9:g.72910038C>G	NCBI36
NG_011683.1:g.125952C>G
NG_011683.2:g.125952C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.325C>G MANE Plus Clinical	ENSP00000329161.8:p.Pro109Ala
ENST00000427177.6:c.379C>G MANE Select	ENSP00000391249.1:p.Pro127Ala
ENST00000588690.6:c.-114C>G	ENSP00000468668.1:n.-114C>G
ENST00000590294.6:n.428C>G
ENST00000329047.12:c.325C>G	ENSP00000329161.8:p.Pro109Ala
ENST00000423034.6:c.358C>G	ENSP00000405877.1:p.Pro120Ala
ENST00000427177.5:c.379C>G	ENSP00000391249.1:p.Pro127Ala
ENST00000427674.6:c.-114C>G	ENSP00000403194.1:n.-114C>G
ENST00000431235.6:c.-114C>G	ENSP00000406987.2:n.-114C>G
ENST00000449803.6:c.-114C>G	ENSP00000400181.2:n.-114C>G
ENST00000586812.1:n.438C>G
ENST00000587514.1:n.508C>G
ENST00000588575.1:c.61C>G	ENSP00000468090.1:p.Pro21Ala
ENST00000588690.5:c.-114C>G	ENSP00000468668.1:n.-114C>G
ENST00000589070.1:c.334C>G	ENSP00000465332.1:p.Pro112Ala
ENST00000589140.1:c.334C>G	ENSP00000466997.1:p.Pro112Ala
ENST00000590059.5:c.25-195C>G	ENSP00000466164.1:n.25-195C>G
ENST00000590294.5:c.325C>G	ENSP00000465464.1:p.Pro109Ala
ENST00000590576.5:c.*379C>G	ENSP00000465600.1:n.*379C>G
ENST00000590586.1:n.484C>G
ENST00000590595.1:c.61C>G	ENSP00000465026.1:p.Pro21Ala
ENST00000590825.1:c.-114C>G	ENSP00000468244.1:n.-114C>G
ENST00000591198.5:c.322C>G	ENSP00000468406.1:p.Pro108Ala
ENST00000591934.1:c.400C>G	ENSP00000468504.1:p.Pro134Ala
ENST00000592098.1:n.409C>G
ENST00000592420.1:c.-195C>G	ENSP00000467051.1:n.-195C>G
NM_001113491.1:c.379C>G	NP_001106963.1:p.Pro127Ala
NM_001113492.1:c.-114C>G	NP_001106964.1:n.-114C>G
NM_001113493.1:c.358C>G	NP_001106965.1:p.Pro120Ala
NM_001113494.1:c.-114C>G	NP_001106966.1:n.-114C>G
NM_001293695.1:c.322C>G	NP_001280624.1:p.Pro108Ala
NM_006640.4:c.325C>G	NP_006631.2:p.Pro109Ala
XM_006721643.2:c.-114C>G	XP_006721706.1:n.-114C>G
XM_011524204.1:c.472C>G	XP_011522506.1:p.Pro158Ala
XM_011524205.1:c.469C>G	XP_011522507.1:p.Pro157Ala
XM_011524206.1:c.334C>G	XP_011522508.1:p.Pro112Ala
XM_011524207.1:c.-114C>G	XP_011522509.1:n.-114C>G
NM_001113491.2:c.379C>G MANE Select	NP_001106963.1:p.Pro127Ala
NM_001113493.2:c.358C>G	NP_001106965.1:p.Pro120Ala
NM_001293695.2:c.322C>G	NP_001280624.1:p.Pro108Ala
NM_001113492.2:c.-114C>G	NP_001106964.1:n.-114C>G
NM_006640.5:c.325C>G MANE Plus Clinical	NP_006631.2:p.Pro109Ala