Canonical Allele Identifier: CA490203022

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862723C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570525C>A , CM000677.2:g.44570525C>A	GRCh38
NC_000015.9:g.44862723C>A , CM000677.1:g.44862723C>A	GRCh37
NC_000015.8:g.42650015C>A	NCBI36
NG_008885.1:g.98154G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.276G>T	ENSP00000453314.2:p.Val92=
ENST00000559511.6:c.6000G>T	ENSP00000453246.2:p.Val2000=
ENST00000682065.1:c.6333G>T	ENSP00000507025.1:p.Val2111=
ENST00000682460.1:c.*2734G>T	ENSP00000508334.1:n.*2734G>T
ENST00000682495.1:c.*2969G>T	ENSP00000507166.1:n.*2969G>T
ENST00000682669.1:c.6276G>T	ENSP00000507782.1:p.Val2092=
ENST00000683186.1:c.*3240G>T	ENSP00000507268.1:n.*3240G>T
ENST00000683496.1:c.*119G>T	ENSP00000506968.1:n.*119G>T
ENST00000683734.1:c.*427G>T	ENSP00000508319.1:n.*427G>T
ENST00000683753.1:n.5523G>T
ENST00000684038.1:c.*2897G>T	ENSP00000507141.1:n.*2897G>T
ENST00000684235.1:c.6477G>T	ENSP00000508295.1:p.Val2159=
ENST00000261866.12:c.6477G>T MANE Select	ENSP00000261866.7:p.Val2159=
ENST00000261866.11:c.6477G>T	ENSP00000261866.7:p.Val2159=
ENST00000427534.6:c.6477G>T	ENSP00000396110.2:p.Val2159=
ENST00000535302.6:c.6138G>T	ENSP00000445278.2:p.Val2046=
ENST00000558138.1:c.276G>T	ENSP00000453314.1:p.Val92=
ENST00000559347.1:n.306G>T
ENST00000559511.5:c.848G>T
ENST00000561268.5:n.275+2158G>T
NM_001160227.1:c.6138G>T	NP_001153699.1:p.Val2046=
NM_025137.3:c.6477G>T	NP_079413.3:p.Val2159=
XM_005254695.3:c.6219G>T	XP_005254752.1:p.Val2073=
XM_006720700.1:c.6333G>T	XP_006720763.1:p.Val2111=
XM_017022634.1:c.6477G>T	XP_016878123.1:p.Val2159=
XM_017022636.1:c.3354G>T	XP_016878125.1:p.Val1118=
NM_025137.4:c.6477G>T MANE Select	NP_079413.3:p.Val2159=
NM_001160227.2:c.6138G>T	NP_001153699.1:p.Val2046=