Canonical Allele Identifier: CA392216365

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862788C>A (hg19) ; chr15:g.44570590C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570590C>A , CM000677.2:g.44570590C>A	GRCh38
NC_000015.9:g.44862788C>A , CM000677.1:g.44862788C>A	GRCh37
NC_000015.8:g.42650080C>A	NCBI36
NG_008885.1:g.98089G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.211G>T	ENSP00000453314.2:p.Val71Phe
ENST00000559511.6:c.5935G>T	ENSP00000453246.2:p.Val1979Phe
ENST00000682065.1:c.6268G>T	ENSP00000507025.1:p.Val2090Phe
ENST00000682460.1:c.*2669G>T	ENSP00000508334.1:n.*2669G>T
ENST00000682495.1:c.*2904G>T	ENSP00000507166.1:n.*2904G>T
ENST00000682669.1:c.6211G>T	ENSP00000507782.1:p.Val2071Phe
ENST00000683186.1:c.*3175G>T	ENSP00000507268.1:n.*3175G>T
ENST00000683496.1:c.*54G>T	ENSP00000506968.1:n.*54G>T
ENST00000683734.1:c.*362G>T	ENSP00000508319.1:n.*362G>T
ENST00000683753.1:n.5458G>T
ENST00000684038.1:c.*2832G>T	ENSP00000507141.1:n.*2832G>T
ENST00000684235.1:c.6412G>T	ENSP00000508295.1:p.Val2138Phe
ENST00000261866.12:c.6412G>T MANE Select	ENSP00000261866.7:p.Val2138Phe
ENST00000261866.11:c.6412G>T	ENSP00000261866.7:p.Val2138Phe
ENST00000427534.6:c.6412G>T	ENSP00000396110.2:p.Val2138Phe
ENST00000535302.6:c.6073G>T	ENSP00000445278.2:p.Val2025Phe
ENST00000558138.1:c.211G>T	ENSP00000453314.1:p.Val71Phe
ENST00000559347.1:n.241G>T
ENST00000559511.5:c.783G>T
ENST00000559933.1:n.481G>T
ENST00000561268.5:n.275+2093G>T
NM_001160227.1:c.6073G>T	NP_001153699.1:p.Val2025Phe
NM_025137.3:c.6412G>T	NP_079413.3:p.Val2138Phe
XM_005254695.3:c.6154G>T	XP_005254752.1:p.Val2052Phe
XM_006720700.1:c.6268G>T	XP_006720763.1:p.Val2090Phe
XM_017022634.1:c.6412G>T	XP_016878123.1:p.Val2138Phe
XM_017022636.1:c.3289G>T	XP_016878125.1:p.Val1097Phe
NM_025137.4:c.6412G>T MANE Select	NP_079413.3:p.Val2138Phe
NM_001160227.2:c.6073G>T	NP_001153699.1:p.Val2025Phe