Canonical Allele Identifier: CA392216234

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862725C>A (hg19) ; chr15:g.44570527C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570527C>A , CM000677.2:g.44570527C>A	GRCh38
NC_000015.9:g.44862725C>A , CM000677.1:g.44862725C>A	GRCh37
NC_000015.8:g.42650017C>A	NCBI36
NG_008885.1:g.98152G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.274G>T	ENSP00000453314.2:p.Val92Leu
ENST00000559511.6:c.5998G>T	ENSP00000453246.2:p.Val2000Leu
ENST00000682065.1:c.6331G>T	ENSP00000507025.1:p.Val2111Leu
ENST00000682460.1:c.*2732G>T	ENSP00000508334.1:n.*2732G>T
ENST00000682495.1:c.*2967G>T	ENSP00000507166.1:n.*2967G>T
ENST00000682669.1:c.6274G>T	ENSP00000507782.1:p.Val2092Leu
ENST00000683186.1:c.*3238G>T	ENSP00000507268.1:n.*3238G>T
ENST00000683496.1:c.*117G>T	ENSP00000506968.1:n.*117G>T
ENST00000683734.1:c.*425G>T	ENSP00000508319.1:n.*425G>T
ENST00000683753.1:n.5521G>T
ENST00000684038.1:c.*2895G>T	ENSP00000507141.1:n.*2895G>T
ENST00000684235.1:c.6475G>T	ENSP00000508295.1:p.Val2159Leu
ENST00000261866.12:c.6475G>T MANE Select	ENSP00000261866.7:p.Val2159Leu
ENST00000261866.11:c.6475G>T	ENSP00000261866.7:p.Val2159Leu
ENST00000427534.6:c.6475G>T	ENSP00000396110.2:p.Val2159Leu
ENST00000535302.6:c.6136G>T	ENSP00000445278.2:p.Val2046Leu
ENST00000558138.1:c.274G>T	ENSP00000453314.1:p.Val92Leu
ENST00000559347.1:n.304G>T
ENST00000559511.5:c.846G>T
ENST00000561268.5:n.275+2156G>T
NM_001160227.1:c.6136G>T	NP_001153699.1:p.Val2046Leu
NM_025137.3:c.6475G>T	NP_079413.3:p.Val2159Leu
XM_005254695.3:c.6217G>T	XP_005254752.1:p.Val2073Leu
XM_006720700.1:c.6331G>T	XP_006720763.1:p.Val2111Leu
XM_017022634.1:c.6475G>T	XP_016878123.1:p.Val2159Leu
XM_017022636.1:c.3352G>T	XP_016878125.1:p.Val1118Leu
NM_025137.4:c.6475G>T MANE Select	NP_079413.3:p.Val2159Leu
NM_001160227.2:c.6136G>T	NP_001153699.1:p.Val2046Leu