Canonical Allele Identifier: CA401269561

Gene: SEPTIN9

Linked Data

• MyVariant Identifiers: chr17:g.75315854A>C (hg19) ; chr17:g.77319772A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77319772A>C , CM000679.2:g.77319772A>C	GRCh38
NC_000017.10:g.75315854A>C , CM000679.1:g.75315854A>C	GRCh37
NC_000017.9:g.72827449A>C	NCBI36
NG_011683.1:g.43363A>C
NG_011683.2:g.43363A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.-555A>C MANE Plus Clinical	ENSP00000329161.8:n.-555A>C
ENST00000427177.6:c.76+12575A>C MANE Select	ENSP00000391249.1:n.76+12575A>C
ENST00000329047.12:c.-555A>C	ENSP00000329161.8:n.-555A>C
ENST00000427177.5:c.76+12575A>C	ENSP00000391249.1:n.76+12575A>C
ENST00000431235.6:c.-417+12575A>C	ENSP00000406987.2:n.-417+12575A>C
ENST00000449803.6:c.-417+12575A>C	ENSP00000400181.2:n.-417+12575A>C
ENST00000587237.1:n.406+12575A>C
ENST00000588575.1:c.5A>C	ENSP00000468090.1:p.Lys2Thr
ENST00000589070.1:c.31+38966A>C	ENSP00000465332.1:n.31+38966A>C
ENST00000590294.5:c.-555A>C	ENSP00000465464.1:n.-555A>C
ENST00000590576.5:c.*76+12575A>C	ENSP00000465600.1:n.*76+12575A>C
ENST00000590595.1:c.5A>C	ENSP00000465026.1:p.Lys2Thr
ENST00000591198.5:c.19+38218A>C	ENSP00000468406.1:n.19+38218A>C
ENST00000591833.5:c.*71+12575A>C	ENSP00000466684.1:n.*71+12575A>C
NM_001113491.1:c.76+12575A>C	NP_001106963.1:n.76+12575A>C
NM_001113492.1:c.-417+12575A>C	NP_001106964.1:n.-417+12575A>C
NM_001293695.1:c.19+38218A>C	NP_001280624.1:n.19+38218A>C
NM_006640.4:c.-555A>C	NP_006631.2:n.-555A>C
XM_006721643.2:c.-417+12575A>C	XP_006721706.1:n.-417+12575A>C
XM_011524204.1:c.169+12575A>C	XP_011522506.1:n.169+12575A>C
XM_011524205.1:c.166+12575A>C	XP_011522507.1:n.166+12575A>C
NM_001113491.2:c.76+12575A>C MANE Select	NP_001106963.1:n.76+12575A>C
NM_001293695.2:c.19+38218A>C	NP_001280624.1:n.19+38218A>C
NM_001113492.2:c.-417+12575A>C	NP_001106964.1:n.-417+12575A>C
NM_006640.5:c.-555A>C MANE Plus Clinical	NP_006631.2:n.-555A>C