Canonical Allele Identifier: CA392216232

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862724A>G (hg19) ; chr15:g.44570526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570526A>G , CM000677.2:g.44570526A>G	GRCh38
NC_000015.9:g.44862724A>G , CM000677.1:g.44862724A>G	GRCh37
NC_000015.8:g.42650016A>G	NCBI36
NG_008885.1:g.98153T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.275T>C	ENSP00000453314.2:p.Val92Ala
ENST00000559511.6:c.5999T>C	ENSP00000453246.2:p.Val2000Ala
ENST00000682065.1:c.6332T>C	ENSP00000507025.1:p.Val2111Ala
ENST00000682460.1:c.*2733T>C	ENSP00000508334.1:n.*2733T>C
ENST00000682495.1:c.*2968T>C	ENSP00000507166.1:n.*2968T>C
ENST00000682669.1:c.6275T>C	ENSP00000507782.1:p.Val2092Ala
ENST00000683186.1:c.*3239T>C	ENSP00000507268.1:n.*3239T>C
ENST00000683496.1:c.*118T>C	ENSP00000506968.1:n.*118T>C
ENST00000683734.1:c.*426T>C	ENSP00000508319.1:n.*426T>C
ENST00000683753.1:n.5522T>C
ENST00000684038.1:c.*2896T>C	ENSP00000507141.1:n.*2896T>C
ENST00000684235.1:c.6476T>C	ENSP00000508295.1:p.Val2159Ala
ENST00000261866.12:c.6476T>C MANE Select	ENSP00000261866.7:p.Val2159Ala
ENST00000261866.11:c.6476T>C	ENSP00000261866.7:p.Val2159Ala
ENST00000427534.6:c.6476T>C	ENSP00000396110.2:p.Val2159Ala
ENST00000535302.6:c.6137T>C	ENSP00000445278.2:p.Val2046Ala
ENST00000558138.1:c.275T>C	ENSP00000453314.1:p.Val92Ala
ENST00000559347.1:n.305T>C
ENST00000559511.5:c.847T>C
ENST00000561268.5:n.275+2157T>C
NM_001160227.1:c.6137T>C	NP_001153699.1:p.Val2046Ala
NM_025137.3:c.6476T>C	NP_079413.3:p.Val2159Ala
XM_005254695.3:c.6218T>C	XP_005254752.1:p.Val2073Ala
XM_006720700.1:c.6332T>C	XP_006720763.1:p.Val2111Ala
XM_017022634.1:c.6476T>C	XP_016878123.1:p.Val2159Ala
XM_017022636.1:c.3353T>C	XP_016878125.1:p.Val1118Ala
NM_025137.4:c.6476T>C MANE Select	NP_079413.3:p.Val2159Ala
NM_001160227.2:c.6137T>C	NP_001153699.1:p.Val2046Ala