Canonical Allele Identifier: CA7533946

Gene: SPG11

Linked Data

• ClinVar Variation Id: 534836
• ClinVar RCV Id: RCV000642530 ; RCV001507872 ; RCV002360574 ; RCV002467949 ; RCV002467948
• dbSNP Id: rs200276333
• ExAC: 15:44858107 T / G
• gnomAD v2: 15-44858107-T-G
• gnomAD v3: 15-44565909-T-G
• gnomAD v4: 15-44565909-T-G
• MyVariant Identifiers: chr15:g.44858107T>G (hg19) ; chr15:g.44565909T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44565909T>G , CM000677.2:g.44565909T>G	GRCh38
NC_000015.9:g.44858107T>G , CM000677.1:g.44858107T>G	GRCh37
NC_000015.8:g.42645399T>G	NCBI36
NG_008885.1:g.102770A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.635A>C	ENSP00000453314.2:p.Asn212Thr
ENST00000559511.6:c.6467A>C	ENSP00000453246.2:p.Asn2156Thr
ENST00000682065.1:c.6800A>C	ENSP00000507025.1:p.Asn2267Thr
ENST00000682460.1:c.*3201A>C	ENSP00000508334.1:n.*3201A>C
ENST00000682495.1:c.*3436A>C	ENSP00000507166.1:n.*3436A>C
ENST00000682669.1:c.6743A>C	ENSP00000507782.1:p.Asn2248Thr
ENST00000683186.1:c.*3707A>C	ENSP00000507268.1:n.*3707A>C
ENST00000683496.1:c.*586A>C	ENSP00000506968.1:n.*586A>C
ENST00000683734.1:c.*894A>C	ENSP00000508319.1:n.*894A>C
ENST00000683753.1:n.5990A>C
ENST00000684038.1:c.*3364A>C	ENSP00000507141.1:n.*3364A>C
ENST00000684235.1:c.6944A>C	ENSP00000508295.1:p.Asn2315Thr
ENST00000261866.12:c.6944A>C MANE Select	ENSP00000261866.7:p.Asn2315Thr
ENST00000261866.11:c.6944A>C	ENSP00000261866.7:p.Asn2315Thr
ENST00000427534.6:c.6754+1515A>C	ENSP00000396110.2:n.6754+1515A>C
ENST00000535302.6:c.6605A>C	ENSP00000445278.2:p.Asn2202Thr
ENST00000558138.1:c.635A>C	ENSP00000453314.1:p.Asn212Thr
ENST00000559511.5:c.1315A>C
ENST00000560299.1:n.236A>C
NM_001160227.1:c.6605A>C	NP_001153699.1:p.Asn2202Thr
NM_025137.3:c.6944A>C	NP_079413.3:p.Asn2315Thr
XM_005254695.3:c.6686A>C	XP_005254752.1:p.Asn2229Thr
XM_006720700.1:c.6800A>C	XP_006720763.1:p.Asn2267Thr
XM_017022634.1:c.6836A>C	XP_016878123.1:p.Asn2279Thr
XM_017022636.1:c.3821A>C	XP_016878125.1:p.Asn1274Thr
NM_025137.4:c.6944A>C MANE Select	NP_079413.3:p.Asn2315Thr
NM_001160227.2:c.6605A>C	NP_001153699.1:p.Asn2202Thr