Canonical Allele Identifier: CA8793800

Gene: SEPTIN9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77492700T>C , CM000679.2:g.77492700T>C	GRCh38
NC_000017.10:g.75488782T>C , CM000679.1:g.75488782T>C	GRCh37
NC_000017.9:g.73000377T>C	NCBI36
NG_011683.1:g.216291T>C
NG_011683.2:g.216291T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001113491.2:c.1460T>C MANE Select	NP_001106963.1:p.Val487Ala
ENST00000427177.6:c.1460T>C MANE Select	ENSP00000391249.1:p.Val487Ala
NM_006640.5:c.1406T>C MANE Plus Clinical	NP_006631.2:p.Val469Ala
ENST00000329047.13:c.1406T>C MANE Plus Clinical	ENSP00000329161.8:p.Val469Ala
NM_001113491.1:c.1460T>C	NP_001106963.1:p.Val487Ala
NM_001113492.1:c.968T>C	NP_001106964.1:p.Val323Ala
NM_001113492.2:c.968T>C	NP_001106964.1:p.Val323Ala
NM_001113493.1:c.1439T>C	NP_001106965.1:p.Val480Ala
NM_001113493.2:c.1439T>C	NP_001106965.1:p.Val480Ala
NM_001113494.1:c.968T>C	NP_001106966.1:p.Val323Ala
NM_001113495.1:c.1124T>C	NP_001106967.1:p.Val375Ala
NM_001113495.2:c.707T>C	NP_001106967.2:p.Val236Ala
NM_001113496.1:c.707T>C	NP_001106968.1:p.Val236Ala
NM_001113496.2:c.707T>C	NP_001106968.1:p.Val236Ala
NM_001293695.1:c.1403T>C	NP_001280624.1:p.Val468Ala
NM_001293695.2:c.1403T>C	NP_001280624.1:p.Val468Ala
NM_001293696.1:c.788T>C	NP_001280625.1:p.Val263Ala
NM_001293696.2:c.788T>C	NP_001280625.1:p.Val263Ala
NM_001293697.1:c.707T>C	NP_001280626.1:p.Val236Ala
NM_001293697.2:c.707T>C	NP_001280626.1:p.Val236Ala
NM_001293698.1:c.707T>C	NP_001280627.1:p.Val236Ala
NM_001293698.2:c.707T>C	NP_001280627.1:p.Val236Ala
NM_006640.4:c.1406T>C	NP_006631.2:p.Val469Ala
ENST00000329047.12:c.1406T>C	ENSP00000329161.8:p.Val469Ala
ENST00000423034.6:c.1439T>C	ENSP00000405877.1:p.Val480Ala
ENST00000427177.5:c.1460T>C	ENSP00000391249.1:p.Val487Ala
ENST00000427180.5:c.1124T>C	ENSP00000415624.1:p.Val375Ala
ENST00000427674.6:c.968T>C	ENSP00000403194.1:p.Val323Ala
ENST00000431235.6:c.968T>C	ENSP00000406987.2:p.Val323Ala
ENST00000449803.6:c.968T>C	ENSP00000400181.2:p.Val323Ala
ENST00000541152.6:c.707T>C	ENSP00000438089.2:p.Val236Ala
ENST00000585930.5:c.788T>C	ENSP00000468120.1:p.Val263Ala
ENST00000586456.1:n.132T>C
ENST00000588690.5:c.968T>C	ENSP00000468668.1:p.Val323Ala
ENST00000588690.6:c.968T>C	ENSP00000468668.1:p.Val323Ala
ENST00000589250.5:n.260T>C
ENST00000589250.6:n.764T>C
ENST00000590294.5:c.1406T>C	ENSP00000465464.1:p.Val469Ala
ENST00000591088.5:c.707T>C	ENSP00000466247.1:p.Val236Ala
ENST00000591198.5:c.1403T>C	ENSP00000468406.1:p.Val468Ala
ENST00000592481.5:n.1024T>C
ENST00000592481.6:c.707T>C	ENSP00000502589.1:p.Val236Ala
ENST00000592951.5:c.707T>C	ENSP00000466648.1:p.Val236Ala
XM_005256962.1:c.707T>C	XP_005257019.1:p.Val236Ala
XM_006721643.2:c.968T>C	XP_006721706.1:p.Val323Ala
XM_006721644.1:c.707T>C	XP_006721707.1:p.Val236Ala
XM_011524204.1:c.1553T>C	XP_011522506.1:p.Val518Ala
XM_011524205.1:c.1550T>C	XP_011522507.1:p.Val517Ala
XM_011524206.1:c.1415T>C	XP_011522508.1:p.Val472Ala
XM_011524207.1:c.968T>C	XP_011522509.1:p.Val323Ala
XM_011524208.1:c.707T>C	XP_011522510.1:p.Val236Ala
XM_011524209.1:c.707T>C	XP_011522511.1:p.Val236Ala