Canonical Allele Identifier: CA392217200

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44864922A>T (hg19) ; chr15:g.44572724A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44572724A>T , CM000677.2:g.44572724A>T	GRCh38
NC_000015.9:g.44864922A>T , CM000677.1:g.44864922A>T	GRCh37
NC_000015.8:g.42652214A>T	NCBI36
NG_008885.1:g.95955T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.101T>A	ENSP00000453314.2:p.Leu34Ter
ENST00000559511.6:c.5867-2066T>A	ENSP00000453246.2:n.5867-2066T>A
ENST00000682065.1:c.6158T>A	ENSP00000507025.1:p.Leu2053Ter
ENST00000682460.1:c.*2559T>A	ENSP00000508334.1:n.*2559T>A
ENST00000682495.1:c.*2794T>A	ENSP00000507166.1:n.*2794T>A
ENST00000682669.1:c.6101T>A	ENSP00000507782.1:p.Leu2034Ter
ENST00000683186.1:c.*3065T>A	ENSP00000507268.1:n.*3065T>A
ENST00000683496.1:c.6007-2072T>A	ENSP00000506968.1:n.6007-2072T>A
ENST00000683734.1:c.*252T>A	ENSP00000508319.1:n.*252T>A
ENST00000683753.1:n.5348T>A
ENST00000684038.1:c.*2722T>A	ENSP00000507141.1:n.*2722T>A
ENST00000684235.1:c.6302T>A	ENSP00000508295.1:p.Leu2101Ter
ENST00000261866.12:c.6302T>A MANE Select	ENSP00000261866.7:p.Leu2101Ter
ENST00000261866.11:c.6302T>A	ENSP00000261866.7:p.Leu2101Ter
ENST00000427534.6:c.6302T>A	ENSP00000396110.2:p.Leu2101Ter
ENST00000535302.6:c.5963T>A	ENSP00000445278.2:p.Leu1988Ter
ENST00000558138.1:c.101T>A	ENSP00000453314.1:p.Leu34Ter
ENST00000559511.5:c.715-2066T>A
ENST00000559933.1:n.371T>A
ENST00000561268.5:n.234T>A
NM_001160227.1:c.5963T>A	NP_001153699.1:p.Leu1988Ter
NM_025137.3:c.6302T>A	NP_079413.3:p.Leu2101Ter
XM_005254695.3:c.6044T>A	XP_005254752.1:p.Leu2015Ter
XM_006720700.1:c.6158T>A	XP_006720763.1:p.Leu2053Ter
XM_017022634.1:c.6302T>A	XP_016878123.1:p.Leu2101Ter
XM_017022636.1:c.3179T>A	XP_016878125.1:p.Leu1060Ter
NM_025137.4:c.6302T>A MANE Select	NP_079413.3:p.Leu2101Ter
NM_001160227.2:c.5963T>A	NP_001153699.1:p.Leu1988Ter