Canonical Allele Identifier: CA392218622

Gene: SPG11

Linked Data

• gnomAD v4: 15-44574927-A-G
• MyVariant Identifiers: chr15:g.44867125A>G (hg19) ; chr15:g.44574927A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574927A>G , CM000677.2:g.44574927A>G	GRCh38
NC_000015.9:g.44867125A>G , CM000677.1:g.44867125A>G	GRCh37
NC_000015.8:g.42654417A>G	NCBI36
NG_008885.1:g.93752T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4269T>C	ENSP00000453246.2:n.5867-4269T>C
ENST00000561391.2:n.2209T>C
ENST00000682065.1:c.5837T>C	ENSP00000507025.1:p.Val1946Ala
ENST00000682460.1:c.*2238T>C	ENSP00000508334.1:n.*2238T>C
ENST00000682495.1:c.*2473T>C	ENSP00000507166.1:n.*2473T>C
ENST00000682669.1:c.5780T>C	ENSP00000507782.1:p.Val1927Ala
ENST00000683186.1:c.*2744T>C	ENSP00000507268.1:n.*2744T>C
ENST00000683496.1:c.5981T>C	ENSP00000506968.1:p.Val1994Ala
ENST00000683734.1:c.5867-1182T>C	ENSP00000508319.1:n.5867-1182T>C
ENST00000683753.1:n.5027T>C
ENST00000684038.1:c.*2401T>C	ENSP00000507141.1:n.*2401T>C
ENST00000684235.1:c.5981T>C	ENSP00000508295.1:p.Val1994Ala
ENST00000684676.1:c.*130T>C	ENSP00000506948.1:n.*130T>C
ENST00000261866.12:c.5981T>C MANE Select	ENSP00000261866.7:p.Val1994Ala
ENST00000261866.11:c.5981T>C	ENSP00000261866.7:p.Val1994Ala
ENST00000427534.6:c.5981T>C	ENSP00000396110.2:p.Val1994Ala
ENST00000535302.6:c.5867-2107T>C	ENSP00000445278.2:n.5867-2107T>C
ENST00000558080.1:n.346T>C
ENST00000558319.5:c.5981T>C	ENSP00000453599.1:p.Val1994Ala
ENST00000559511.5:c.715-4269T>C
ENST00000559822.1:c.524T>C
NM_001160227.1:c.5867-2107T>C	NP_001153699.1:n.5867-2107T>C
NM_025137.3:c.5981T>C	NP_079413.3:p.Val1994Ala
XM_005254695.3:c.5723T>C	XP_005254752.1:p.Val1908Ala
XM_006720700.1:c.5837T>C	XP_006720763.1:p.Val1946Ala
XM_017022634.1:c.5981T>C	XP_016878123.1:p.Val1994Ala
XM_017022636.1:c.2858T>C	XP_016878125.1:p.Val953Ala
NM_025137.4:c.5981T>C MANE Select	NP_079413.3:p.Val1994Ala
NM_001160227.2:c.5867-2107T>C	NP_001153699.1:n.5867-2107T>C