Canonical Allele Identifier: CA392217213

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44864925A>T (hg19) ; chr15:g.44572727A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44572727A>T , CM000677.2:g.44572727A>T	GRCh38
NC_000015.9:g.44864925A>T , CM000677.1:g.44864925A>T	GRCh37
NC_000015.8:g.42652217A>T	NCBI36
NG_008885.1:g.95952T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000558138.2:c.98T>A	ENSP00000453314.2:p.Leu33Ter
ENST00000559511.6:c.5867-2069T>A	ENSP00000453246.2:n.5867-2069T>A
ENST00000682065.1:c.6155T>A	ENSP00000507025.1:p.Leu2052Ter
ENST00000682460.1:c.*2556T>A	ENSP00000508334.1:n.*2556T>A
ENST00000682495.1:c.*2791T>A	ENSP00000507166.1:n.*2791T>A
ENST00000682669.1:c.6098T>A	ENSP00000507782.1:p.Leu2033Ter
ENST00000683186.1:c.*3062T>A	ENSP00000507268.1:n.*3062T>A
ENST00000683496.1:c.6007-2075T>A	ENSP00000506968.1:n.6007-2075T>A
ENST00000683734.1:c.*249T>A	ENSP00000508319.1:n.*249T>A
ENST00000683753.1:n.5345T>A
ENST00000684038.1:c.*2719T>A	ENSP00000507141.1:n.*2719T>A
ENST00000684235.1:c.6299T>A	ENSP00000508295.1:p.Leu2100Ter
ENST00000261866.12:c.6299T>A MANE Select	ENSP00000261866.7:p.Leu2100Ter
ENST00000261866.11:c.6299T>A	ENSP00000261866.7:p.Leu2100Ter
ENST00000427534.6:c.6299T>A	ENSP00000396110.2:p.Leu2100Ter
ENST00000535302.6:c.5960T>A	ENSP00000445278.2:p.Leu1987Ter
ENST00000558138.1:c.98T>A	ENSP00000453314.1:p.Leu33Ter
ENST00000559511.5:c.715-2069T>A
ENST00000559933.1:n.368T>A
ENST00000561268.5:n.231T>A
NM_001160227.1:c.5960T>A	NP_001153699.1:p.Leu1987Ter
NM_025137.3:c.6299T>A	NP_079413.3:p.Leu2100Ter
XM_005254695.3:c.6041T>A	XP_005254752.1:p.Leu2014Ter
XM_006720700.1:c.6155T>A	XP_006720763.1:p.Leu2052Ter
XM_017022634.1:c.6299T>A	XP_016878123.1:p.Leu2100Ter
XM_017022636.1:c.3176T>A	XP_016878125.1:p.Leu1059Ter
NM_025137.4:c.6299T>A MANE Select	NP_079413.3:p.Leu2100Ter
NM_001160227.2:c.5960T>A	NP_001153699.1:p.Leu1987Ter