Canonical Allele Identifier: CA392217231

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44864928T>G (hg19) ; chr15:g.44572730T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44572730T>G , CM000677.2:g.44572730T>G	GRCh38
NC_000015.9:g.44864928T>G , CM000677.1:g.44864928T>G	GRCh37
NC_000015.8:g.42652220T>G	NCBI36
NG_008885.1:g.95949A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.95A>C	ENSP00000453314.2:p.Lys32Thr
ENST00000559511.6:c.5867-2072A>C	ENSP00000453246.2:n.5867-2072A>C
ENST00000682065.1:c.6152A>C	ENSP00000507025.1:p.Lys2051Thr
ENST00000682460.1:c.*2553A>C	ENSP00000508334.1:n.*2553A>C
ENST00000682495.1:c.*2788A>C	ENSP00000507166.1:n.*2788A>C
ENST00000682669.1:c.6095A>C	ENSP00000507782.1:p.Lys2032Thr
ENST00000683186.1:c.*3059A>C	ENSP00000507268.1:n.*3059A>C
ENST00000683496.1:c.6007-2078A>C	ENSP00000506968.1:n.6007-2078A>C
ENST00000683734.1:c.*246A>C	ENSP00000508319.1:n.*246A>C
ENST00000683753.1:n.5342A>C
ENST00000684038.1:c.*2716A>C	ENSP00000507141.1:n.*2716A>C
ENST00000684235.1:c.6296A>C	ENSP00000508295.1:p.Lys2099Thr
ENST00000261866.12:c.6296A>C MANE Select	ENSP00000261866.7:p.Lys2099Thr
ENST00000261866.11:c.6296A>C	ENSP00000261866.7:p.Lys2099Thr
ENST00000427534.6:c.6296A>C	ENSP00000396110.2:p.Lys2099Thr
ENST00000535302.6:c.5957A>C	ENSP00000445278.2:p.Lys1986Thr
ENST00000558138.1:c.95A>C	ENSP00000453314.1:p.Lys32Thr
ENST00000559511.5:c.715-2072A>C
ENST00000559933.1:n.365A>C
ENST00000561268.5:n.228A>C
NM_001160227.1:c.5957A>C	NP_001153699.1:p.Lys1986Thr
NM_025137.3:c.6296A>C	NP_079413.3:p.Lys2099Thr
XM_005254695.3:c.6038A>C	XP_005254752.1:p.Lys2013Thr
XM_006720700.1:c.6152A>C	XP_006720763.1:p.Lys2051Thr
XM_017022634.1:c.6296A>C	XP_016878123.1:p.Lys2099Thr
XM_017022636.1:c.3173A>C	XP_016878125.1:p.Lys1058Thr
NM_025137.4:c.6296A>C MANE Select	NP_079413.3:p.Lys2099Thr
NM_001160227.2:c.5957A>C	NP_001153699.1:p.Lys1986Thr