Canonical Allele Identifier: CA7534298

Gene: SPG11

Linked Data

• dbSNP Id: rs746087432
• ExAC: 15:44867121 G / T
• gnomAD v2: 15-44867121-G-T
• gnomAD v4: 15-44574923-G-T
• MyVariant Identifiers: chr15:g.44867121G>T (hg19) ; chr15:g.44574923G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574923G>T , CM000677.2:g.44574923G>T	GRCh38
NC_000015.9:g.44867121G>T , CM000677.1:g.44867121G>T	GRCh37
NC_000015.8:g.42654413G>T	NCBI36
NG_008885.1:g.93756C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4265C>A	ENSP00000453246.2:n.5867-4265C>A
ENST00000561391.2:n.2213C>A
ENST00000682065.1:c.5841C>A	ENSP00000507025.1:p.Leu1947=
ENST00000682460.1:c.*2242C>A	ENSP00000508334.1:n.*2242C>A
ENST00000682495.1:c.*2477C>A	ENSP00000507166.1:n.*2477C>A
ENST00000682669.1:c.5784C>A	ENSP00000507782.1:p.Leu1928=
ENST00000683186.1:c.*2748C>A	ENSP00000507268.1:n.*2748C>A
ENST00000683496.1:c.5985C>A	ENSP00000506968.1:p.Leu1995=
ENST00000683734.1:c.5867-1178C>A	ENSP00000508319.1:n.5867-1178C>A
ENST00000683753.1:n.5031C>A
ENST00000684038.1:c.*2405C>A	ENSP00000507141.1:n.*2405C>A
ENST00000684235.1:c.5985C>A	ENSP00000508295.1:p.Leu1995=
ENST00000684676.1:c.*134C>A	ENSP00000506948.1:n.*134C>A
ENST00000261866.12:c.5985C>A MANE Select	ENSP00000261866.7:p.Leu1995=
ENST00000261866.11:c.5985C>A	ENSP00000261866.7:p.Leu1995=
ENST00000427534.6:c.5985C>A	ENSP00000396110.2:p.Leu1995=
ENST00000535302.6:c.5867-2103C>A	ENSP00000445278.2:n.5867-2103C>A
ENST00000558080.1:n.350C>A
ENST00000558319.5:c.5985C>A	ENSP00000453599.1:p.Leu1995=
ENST00000559511.5:c.715-4265C>A
ENST00000559822.1:c.528C>A
NM_001160227.1:c.5867-2103C>A	NP_001153699.1:n.5867-2103C>A
NM_025137.3:c.5985C>A	NP_079413.3:p.Leu1995=
XM_005254695.3:c.5727C>A	XP_005254752.1:p.Leu1909=
XM_006720700.1:c.5841C>A	XP_006720763.1:p.Leu1947=
XM_017022634.1:c.5985C>A	XP_016878123.1:p.Leu1995=
XM_017022636.1:c.2862C>A	XP_016878125.1:p.Leu954=
NM_025137.4:c.5985C>A MANE Select	NP_079413.3:p.Leu1995=
NM_001160227.2:c.5867-2103C>A	NP_001153699.1:n.5867-2103C>A