Canonical Allele Identifier: CA7533923

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44564698C>G , CM000677.2:g.44564698C>G	GRCh38
NC_000015.9:g.44856896C>G , CM000677.1:g.44856896C>G	GRCh37
NC_000015.8:g.42644188C>G	NCBI36
NG_008885.1:g.103981G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.7000G>C MANE Select	NP_079413.3:p.Ala2334Pro
ENST00000261866.12:c.7000G>C MANE Select	ENSP00000261866.7:p.Ala2334Pro
NM_001160227.1:c.6661G>C	NP_001153699.1:p.Ala2221Pro
NM_001160227.2:c.6661G>C	NP_001153699.1:p.Ala2221Pro
NM_025137.3:c.7000G>C	NP_079413.3:p.Ala2334Pro
ENST00000261866.11:c.7000G>C	ENSP00000261866.7:p.Ala2334Pro
ENST00000427534.6:c.6755-1397G>C	ENSP00000396110.2:n.6755-1397G>C
ENST00000535302.6:c.6661G>C	ENSP00000445278.2:p.Ala2221Pro
ENST00000558138.1:c.691G>C	ENSP00000453314.1:p.Ala231Pro
ENST00000558138.2:c.691G>C	ENSP00000453314.2:p.Ala231Pro
ENST00000559511.5:c.1371G>C
ENST00000559511.6:c.6523G>C	ENSP00000453246.2:p.Ala2175Pro
ENST00000560299.1:n.292G>C
ENST00000682065.1:c.6856G>C	ENSP00000507025.1:p.Ala2286Pro
ENST00000682460.1:c.*3257G>C	ENSP00000508334.1:n.*3257G>C
ENST00000682495.1:c.*3492G>C	ENSP00000507166.1:n.*3492G>C
ENST00000682669.1:c.6799G>C	ENSP00000507782.1:p.Ala2267Pro
ENST00000683186.1:c.*3763G>C	ENSP00000507268.1:n.*3763G>C
ENST00000683496.1:c.*642G>C	ENSP00000506968.1:n.*642G>C
ENST00000683734.1:c.*950G>C	ENSP00000508319.1:n.*950G>C
ENST00000683753.1:n.6046G>C
ENST00000684038.1:c.*3420G>C	ENSP00000507141.1:n.*3420G>C
ENST00000684235.1:c.7000G>C	ENSP00000508295.1:p.Ala2334Pro
XM_005254695.3:c.6742G>C	XP_005254752.1:p.Ala2248Pro
XM_006720700.1:c.6856G>C	XP_006720763.1:p.Ala2286Pro
XM_017022634.1:c.6892G>C	XP_016878123.1:p.Ala2298Pro
XM_017022636.1:c.3877G>C	XP_016878125.1:p.Ala1293Pro