Canonical Allele Identifier: CA270068486

Gene: SPG11

Linked Data

• ClinVar Variation Id: 2919518
• ClinVar RCV Id: RCV003602013
• dbSNP Id: rs375368475
• gnomAD v2: 15-44907689-T-G
• gnomAD v3: 15-44615491-T-G
• gnomAD v4: 15-44615491-T-G
• MyVariant Identifiers: chr15:g.44907689T>G (hg19) ; chr15:g.44615491T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44615491T>G , CM000677.2:g.44615491T>G	GRCh38
NC_000015.9:g.44907689T>G , CM000677.1:g.44907689T>G	GRCh37
NC_000015.8:g.42694981T>G	NCBI36
NG_008885.1:g.53188A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.2910A>C	ENSP00000453246.2:p.Val970=
ENST00000682065.1:c.2910A>C	ENSP00000507025.1:p.Val970=
ENST00000682460.1:c.2910A>C	ENSP00000508334.1:p.Val970=
ENST00000682495.1:c.2910A>C	ENSP00000507166.1:p.Val970=
ENST00000682669.1:c.2910A>C	ENSP00000507782.1:p.Val970=
ENST00000682788.1:c.2910A>C	ENSP00000508089.1:p.Val970=
ENST00000682915.1:c.2910A>C	ENSP00000507493.1:p.Val970=
ENST00000683121.1:c.2910A>C	ENSP00000507557.1:p.Val970=
ENST00000683186.1:c.2910A>C	ENSP00000507268.1:p.Val970=
ENST00000683255.1:c.2910A>C	ENSP00000508340.1:p.Val970=
ENST00000683496.1:c.2910A>C	ENSP00000506968.1:p.Val970=
ENST00000683573.1:c.*125A>C	ENSP00000508031.1:n.*125A>C
ENST00000683734.1:c.2910A>C	ENSP00000508319.1:p.Val970=
ENST00000683753.1:n.2034A>C
ENST00000684038.1:c.2652A>C	ENSP00000507141.1:p.Val884=
ENST00000684235.1:c.2910A>C	ENSP00000508295.1:p.Val970=
ENST00000684676.1:c.2910A>C	ENSP00000506948.1:p.Val970=
ENST00000261866.12:c.2910A>C MANE Select	ENSP00000261866.7:p.Val970=
ENST00000261866.11:c.2910A>C	ENSP00000261866.7:p.Val970=
ENST00000427534.6:c.2910A>C	ENSP00000396110.2:p.Val970=
ENST00000535302.6:c.2910A>C	ENSP00000445278.2:p.Val970=
ENST00000558319.5:c.2910A>C	ENSP00000453599.1:p.Val970=
ENST00000558989.1:n.1753A>C
ENST00000560435.1:c.257A>C	ENSP00000452629.1:n.257A>C
NM_001160227.1:c.2910A>C	NP_001153699.1:p.Val970=
NM_025137.3:c.2910A>C	NP_079413.3:p.Val970=
XM_005254695.3:c.2652A>C	XP_005254752.1:p.Val884=
XM_006720700.1:c.2910A>C	XP_006720763.1:p.Val970=
XM_006720701.2:c.2910A>C	XP_006720764.1:p.Val970=
XM_011522093.1:c.2910A>C	XP_011520395.1:p.Val970=
XR_931917.1:n.2941A>C
XM_006720701.3:c.2910A>C	XP_006720764.1:p.Val970=
XM_017022634.1:c.2910A>C	XP_016878123.1:p.Val970=
XM_017022635.2:c.2910A>C	XP_016878124.1:p.Val970=
XM_017022636.1:c.-107A>C	XP_016878125.1:n.-107A>C
XR_001751402.1:n.2941A>C
XR_931917.2:n.2941A>C
NM_025137.4:c.2910A>C MANE Select	NP_079413.3:p.Val970=
NM_001160227.2:c.2910A>C	NP_001153699.1:p.Val970=