Canonical Allele Identifier: CA392216236

Gene: SPG11

Linked Data

• gnomAD v4: 15-44570529-A-G
• MyVariant Identifiers: chr15:g.44862727A>G (hg19) ; chr15:g.44570529A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570529A>G , CM000677.2:g.44570529A>G	GRCh38
NC_000015.9:g.44862727A>G , CM000677.1:g.44862727A>G	GRCh37
NC_000015.8:g.42650019A>G	NCBI36
NG_008885.1:g.98150T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.272T>C	ENSP00000453314.2:p.Leu91Pro
ENST00000559511.6:c.5996T>C	ENSP00000453246.2:p.Leu1999Pro
ENST00000682065.1:c.6329T>C	ENSP00000507025.1:p.Leu2110Pro
ENST00000682460.1:c.*2730T>C	ENSP00000508334.1:n.*2730T>C
ENST00000682495.1:c.*2965T>C	ENSP00000507166.1:n.*2965T>C
ENST00000682669.1:c.6272T>C	ENSP00000507782.1:p.Leu2091Pro
ENST00000683186.1:c.*3236T>C	ENSP00000507268.1:n.*3236T>C
ENST00000683496.1:c.*115T>C	ENSP00000506968.1:n.*115T>C
ENST00000683734.1:c.*423T>C	ENSP00000508319.1:n.*423T>C
ENST00000683753.1:n.5519T>C
ENST00000684038.1:c.*2893T>C	ENSP00000507141.1:n.*2893T>C
ENST00000684235.1:c.6473T>C	ENSP00000508295.1:p.Leu2158Pro
ENST00000261866.12:c.6473T>C MANE Select	ENSP00000261866.7:p.Leu2158Pro
ENST00000261866.11:c.6473T>C	ENSP00000261866.7:p.Leu2158Pro
ENST00000427534.6:c.6473T>C	ENSP00000396110.2:p.Leu2158Pro
ENST00000535302.6:c.6134T>C	ENSP00000445278.2:p.Leu2045Pro
ENST00000558138.1:c.272T>C	ENSP00000453314.1:p.Leu91Pro
ENST00000559347.1:n.302T>C
ENST00000559511.5:c.844T>C
ENST00000561268.5:n.275+2154T>C
NM_001160227.1:c.6134T>C	NP_001153699.1:p.Leu2045Pro
NM_025137.3:c.6473T>C	NP_079413.3:p.Leu2158Pro
XM_005254695.3:c.6215T>C	XP_005254752.1:p.Leu2072Pro
XM_006720700.1:c.6329T>C	XP_006720763.1:p.Leu2110Pro
XM_017022634.1:c.6473T>C	XP_016878123.1:p.Leu2158Pro
XM_017022636.1:c.3350T>C	XP_016878125.1:p.Leu1117Pro
NM_025137.4:c.6473T>C MANE Select	NP_079413.3:p.Leu2158Pro
NM_001160227.2:c.6134T>C	NP_001153699.1:p.Leu2045Pro