Canonical Allele Identifier: CA7534588

Gene: SPG11

Linked Data

• ClinVar Variation Id: 282258
• ClinVar RCV Id: RCV000513183 ; RCV001086542 ; RCV001848049 ; RCV002338823
• dbSNP Id: rs147550048
• ExAC: 15:44881618 A / G
• gnomAD v2: 15-44881618-A-G
• gnomAD v3: 15-44589420-A-G
• gnomAD v4: 15-44589420-A-G
• MyVariant Identifiers: chr15:g.44881618A>G (hg19) ; chr15:g.44589420A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44589420A>G , CM000677.2:g.44589420A>G	GRCh38
NC_000015.9:g.44881618A>G , CM000677.1:g.44881618A>G	GRCh37
NC_000015.8:g.42668910A>G	NCBI36
NG_008885.1:g.79259T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.4744-6T>C	ENSP00000453246.2:n.4744-6T>C
ENST00000561391.2:n.972-6T>C
ENST00000682065.1:c.4744-6T>C	ENSP00000507025.1:n.4744-6T>C
ENST00000682460.1:c.*1163+2911T>C	ENSP00000508334.1:n.*1163+2911T>C
ENST00000682495.1:c.*1236-6T>C	ENSP00000507166.1:n.*1236-6T>C
ENST00000682669.1:c.4543-6T>C	ENSP00000507782.1:n.4543-6T>C
ENST00000682788.1:c.4744-6T>C	ENSP00000508089.1:n.4744-6T>C
ENST00000683121.1:c.*87-6T>C	ENSP00000507557.1:n.*87-6T>C
ENST00000683186.1:c.*1507-6T>C	ENSP00000507268.1:n.*1507-6T>C
ENST00000683496.1:c.4744-6T>C	ENSP00000506968.1:n.4744-6T>C
ENST00000683734.1:c.4744-6T>C	ENSP00000508319.1:n.4744-6T>C
ENST00000683753.1:n.3790-6T>C
ENST00000684038.1:c.*1164-6T>C	ENSP00000507141.1:n.*1164-6T>C
ENST00000684235.1:c.4744-6T>C	ENSP00000508295.1:n.4744-6T>C
ENST00000684676.1:c.4744-6T>C	ENSP00000506948.1:n.4744-6T>C
ENST00000261866.12:c.4744-6T>C MANE Select	ENSP00000261866.7:n.4744-6T>C
ENST00000261866.11:c.4744-6T>C	ENSP00000261866.7:n.4744-6T>C
ENST00000427534.6:c.4744-6T>C	ENSP00000396110.2:n.4744-6T>C
ENST00000535302.6:c.4744-6T>C	ENSP00000445278.2:n.4744-6T>C
ENST00000558155.1:c.396-6T>C	ENSP00000453238.1:n.396-6T>C
ENST00000558253.5:n.518-6T>C
ENST00000558319.5:c.4744-6T>C	ENSP00000453599.1:n.4744-6T>C
ENST00000558790.5:n.109-6T>C
ENST00000560858.1:c.124-6T>C	ENSP00000452991.1:n.124-6T>C
NM_001160227.1:c.4744-6T>C	NP_001153699.1:n.4744-6T>C
NM_025137.3:c.4744-6T>C	NP_079413.3:n.4744-6T>C
XM_005254695.3:c.4486-6T>C	XP_005254752.1:n.4486-6T>C
XM_006720700.1:c.4744-6T>C	XP_006720763.1:n.4744-6T>C
XM_006720701.2:c.4743+2911T>C	XP_006720764.1:n.4743+2911T>C
XM_006720701.3:c.4743+2911T>C	XP_006720764.1:n.4743+2911T>C
XM_017022634.1:c.4744-6T>C	XP_016878123.1:n.4744-6T>C
XM_017022636.1:c.1621-6T>C	XP_016878125.1:n.1621-6T>C
XR_931917.2:n.4798-6T>C
NM_025137.4:c.4744-6T>C MANE Select	NP_079413.3:n.4744-6T>C
NM_001160227.2:c.4744-6T>C	NP_001153699.1:n.4744-6T>C