Canonical Allele Identifier: CA490203059

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862744G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570546G>T , CM000677.2:g.44570546G>T	GRCh38
NC_000015.9:g.44862744G>T , CM000677.1:g.44862744G>T	GRCh37
NC_000015.8:g.42650036G>T	NCBI36
NG_008885.1:g.98133C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.255C>A	ENSP00000453314.2:p.Pro85=
ENST00000559511.6:c.5979C>A	ENSP00000453246.2:p.Pro1993=
ENST00000682065.1:c.6312C>A	ENSP00000507025.1:p.Pro2104=
ENST00000682460.1:c.*2713C>A	ENSP00000508334.1:n.*2713C>A
ENST00000682495.1:c.*2948C>A	ENSP00000507166.1:n.*2948C>A
ENST00000682669.1:c.6255C>A	ENSP00000507782.1:p.Pro2085=
ENST00000683186.1:c.*3219C>A	ENSP00000507268.1:n.*3219C>A
ENST00000683496.1:c.*98C>A	ENSP00000506968.1:n.*98C>A
ENST00000683734.1:c.*406C>A	ENSP00000508319.1:n.*406C>A
ENST00000683753.1:n.5502C>A
ENST00000684038.1:c.*2876C>A	ENSP00000507141.1:n.*2876C>A
ENST00000684235.1:c.6456C>A	ENSP00000508295.1:p.Pro2152=
ENST00000261866.12:c.6456C>A MANE Select	ENSP00000261866.7:p.Pro2152=
ENST00000261866.11:c.6456C>A	ENSP00000261866.7:p.Pro2152=
ENST00000427534.6:c.6456C>A	ENSP00000396110.2:p.Pro2152=
ENST00000535302.6:c.6117C>A	ENSP00000445278.2:p.Pro2039=
ENST00000558138.1:c.255C>A	ENSP00000453314.1:p.Pro85=
ENST00000559347.1:n.285C>A
ENST00000559511.5:c.827C>A
ENST00000561268.5:n.275+2137C>A
NM_001160227.1:c.6117C>A	NP_001153699.1:p.Pro2039=
NM_025137.3:c.6456C>A	NP_079413.3:p.Pro2152=
XM_005254695.3:c.6198C>A	XP_005254752.1:p.Pro2066=
XM_006720700.1:c.6312C>A	XP_006720763.1:p.Pro2104=
XM_017022634.1:c.6456C>A	XP_016878123.1:p.Pro2152=
XM_017022636.1:c.3333C>A	XP_016878125.1:p.Pro1111=
NM_025137.4:c.6456C>A MANE Select	NP_079413.3:p.Pro2152=
NM_001160227.2:c.6117C>A	NP_001153699.1:p.Pro2039=