Canonical Allele Identifier: CA7534124

Gene: SPG11

Linked Data

• dbSNP Id: rs759378435
• ExAC: 15:44862725 C / T
• gnomAD v2: 15-44862725-C-T
• gnomAD v4: 15-44570527-C-T
• MyVariant Identifiers: chr15:g.44862725C>T (hg19) ; chr15:g.44570527C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570527C>T , CM000677.2:g.44570527C>T	GRCh38
NC_000015.9:g.44862725C>T , CM000677.1:g.44862725C>T	GRCh37
NC_000015.8:g.42650017C>T	NCBI36
NG_008885.1:g.98152G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.274G>A	ENSP00000453314.2:p.Val92Met
ENST00000559511.6:c.5998G>A	ENSP00000453246.2:p.Val2000Met
ENST00000682065.1:c.6331G>A	ENSP00000507025.1:p.Val2111Met
ENST00000682460.1:c.*2732G>A	ENSP00000508334.1:n.*2732G>A
ENST00000682495.1:c.*2967G>A	ENSP00000507166.1:n.*2967G>A
ENST00000682669.1:c.6274G>A	ENSP00000507782.1:p.Val2092Met
ENST00000683186.1:c.*3238G>A	ENSP00000507268.1:n.*3238G>A
ENST00000683496.1:c.*117G>A	ENSP00000506968.1:n.*117G>A
ENST00000683734.1:c.*425G>A	ENSP00000508319.1:n.*425G>A
ENST00000683753.1:n.5521G>A
ENST00000684038.1:c.*2895G>A	ENSP00000507141.1:n.*2895G>A
ENST00000684235.1:c.6475G>A	ENSP00000508295.1:p.Val2159Met
ENST00000261866.12:c.6475G>A MANE Select	ENSP00000261866.7:p.Val2159Met
ENST00000261866.11:c.6475G>A	ENSP00000261866.7:p.Val2159Met
ENST00000427534.6:c.6475G>A	ENSP00000396110.2:p.Val2159Met
ENST00000535302.6:c.6136G>A	ENSP00000445278.2:p.Val2046Met
ENST00000558138.1:c.274G>A	ENSP00000453314.1:p.Val92Met
ENST00000559347.1:n.304G>A
ENST00000559511.5:c.846G>A
ENST00000561268.5:n.275+2156G>A
NM_001160227.1:c.6136G>A	NP_001153699.1:p.Val2046Met
NM_025137.3:c.6475G>A	NP_079413.3:p.Val2159Met
XM_005254695.3:c.6217G>A	XP_005254752.1:p.Val2073Met
XM_006720700.1:c.6331G>A	XP_006720763.1:p.Val2111Met
XM_017022634.1:c.6475G>A	XP_016878123.1:p.Val2159Met
XM_017022636.1:c.3352G>A	XP_016878125.1:p.Val1118Met
NM_025137.4:c.6475G>A MANE Select	NP_079413.3:p.Val2159Met
NM_001160227.2:c.6136G>A	NP_001153699.1:p.Val2046Met