Canonical Allele Identifier: CA490203070

Gene: SPG11

Linked Data

• dbSNP Id: rs1459540152
• gnomAD v2: 15-44862750-C-T
• gnomAD v3: 15-44570552-C-T
• gnomAD v4: 15-44570552-C-T
• MyVariant Identifiers: chr15:g.44862750C>T (hg19) ; chr15:g.44570552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570552C>T , CM000677.2:g.44570552C>T	GRCh38
NC_000015.9:g.44862750C>T , CM000677.1:g.44862750C>T	GRCh37
NC_000015.8:g.42650042C>T	NCBI36
NG_008885.1:g.98127G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.249G>A	ENSP00000453314.2:p.Leu83=
ENST00000559511.6:c.5973G>A	ENSP00000453246.2:p.Leu1991=
ENST00000682065.1:c.6306G>A	ENSP00000507025.1:p.Leu2102=
ENST00000682460.1:c.*2707G>A	ENSP00000508334.1:n.*2707G>A
ENST00000682495.1:c.*2942G>A	ENSP00000507166.1:n.*2942G>A
ENST00000682669.1:c.6249G>A	ENSP00000507782.1:p.Leu2083=
ENST00000683186.1:c.*3213G>A	ENSP00000507268.1:n.*3213G>A
ENST00000683496.1:c.*92G>A	ENSP00000506968.1:n.*92G>A
ENST00000683734.1:c.*400G>A	ENSP00000508319.1:n.*400G>A
ENST00000683753.1:n.5496G>A
ENST00000684038.1:c.*2870G>A	ENSP00000507141.1:n.*2870G>A
ENST00000684235.1:c.6450G>A	ENSP00000508295.1:p.Leu2150=
ENST00000261866.12:c.6450G>A MANE Select	ENSP00000261866.7:p.Leu2150=
ENST00000261866.11:c.6450G>A	ENSP00000261866.7:p.Leu2150=
ENST00000427534.6:c.6450G>A	ENSP00000396110.2:p.Leu2150=
ENST00000535302.6:c.6111G>A	ENSP00000445278.2:p.Leu2037=
ENST00000558138.1:c.249G>A	ENSP00000453314.1:p.Leu83=
ENST00000559347.1:n.279G>A
ENST00000559511.5:c.821G>A
ENST00000561268.5:n.275+2131G>A
NM_001160227.1:c.6111G>A	NP_001153699.1:p.Leu2037=
NM_025137.3:c.6450G>A	NP_079413.3:p.Leu2150=
XM_005254695.3:c.6192G>A	XP_005254752.1:p.Leu2064=
XM_006720700.1:c.6306G>A	XP_006720763.1:p.Leu2102=
XM_017022634.1:c.6450G>A	XP_016878123.1:p.Leu2150=
XM_017022636.1:c.3327G>A	XP_016878125.1:p.Leu1109=
NM_025137.4:c.6450G>A MANE Select	NP_079413.3:p.Leu2150=
NM_001160227.2:c.6111G>A	NP_001153699.1:p.Leu2037=