Canonical Allele Identifier: CA270062772

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1034089
• ClinVar RCV Id: RCV001336696 ; RCV003495243
• dbSNP Id: rs146240471
• gnomAD v3: 15-44570534-A-G
• gnomAD v4: 15-44570534-A-G
• COSMIC: COSM3956654
• MyVariant Identifiers: chr15:g.44862732A>G (hg19) ; chr15:g.44570534A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570534A>G , CM000677.2:g.44570534A>G	GRCh38
NC_000015.9:g.44862732A>G , CM000677.1:g.44862732A>G	GRCh37
NC_000015.8:g.42650024A>G	NCBI36
NG_008885.1:g.98145T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.267T>C	ENSP00000453314.2:p.Tyr89=
ENST00000559511.6:c.5991T>C	ENSP00000453246.2:p.Tyr1997=
ENST00000682065.1:c.6324T>C	ENSP00000507025.1:p.Tyr2108=
ENST00000682460.1:c.*2725T>C	ENSP00000508334.1:n.*2725T>C
ENST00000682495.1:c.*2960T>C	ENSP00000507166.1:n.*2960T>C
ENST00000682669.1:c.6267T>C	ENSP00000507782.1:p.Tyr2089=
ENST00000683186.1:c.*3231T>C	ENSP00000507268.1:n.*3231T>C
ENST00000683496.1:c.*110T>C	ENSP00000506968.1:n.*110T>C
ENST00000683734.1:c.*418T>C	ENSP00000508319.1:n.*418T>C
ENST00000683753.1:n.5514T>C
ENST00000684038.1:c.*2888T>C	ENSP00000507141.1:n.*2888T>C
ENST00000684235.1:c.6468T>C	ENSP00000508295.1:p.Tyr2156=
ENST00000261866.12:c.6468T>C MANE Select	ENSP00000261866.7:p.Tyr2156=
ENST00000261866.11:c.6468T>C	ENSP00000261866.7:p.Tyr2156=
ENST00000427534.6:c.6468T>C	ENSP00000396110.2:p.Tyr2156=
ENST00000535302.6:c.6129T>C	ENSP00000445278.2:p.Tyr2043=
ENST00000558138.1:c.267T>C	ENSP00000453314.1:p.Tyr89=
ENST00000559347.1:n.297T>C
ENST00000559511.5:c.839T>C
ENST00000561268.5:n.275+2149T>C
NM_001160227.1:c.6129T>C	NP_001153699.1:p.Tyr2043=
NM_025137.3:c.6468T>C	NP_079413.3:p.Tyr2156=
XM_005254695.3:c.6210T>C	XP_005254752.1:p.Tyr2070=
XM_006720700.1:c.6324T>C	XP_006720763.1:p.Tyr2108=
XM_017022634.1:c.6468T>C	XP_016878123.1:p.Tyr2156=
XM_017022636.1:c.3345T>C	XP_016878125.1:p.Tyr1115=
NM_025137.4:c.6468T>C MANE Select	NP_079413.3:p.Tyr2156=
NM_001160227.2:c.6129T>C	NP_001153699.1:p.Tyr2043=