Canonical Allele Identifier: CA344388

Gene: SPG11

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44564675G>T , CM000677.2:g.44564675G>T	GRCh38
NC_000015.9:g.44856873G>T , CM000677.1:g.44856873G>T	GRCh37
NC_000015.8:g.42644165G>T	NCBI36
NG_008885.1:g.104004C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.714C>A	ENSP00000453314.2:p.Tyr238Ter
ENST00000559511.6:c.6546C>A	ENSP00000453246.2:p.Tyr2182Ter
ENST00000682065.1:c.6879C>A	ENSP00000507025.1:p.Tyr2293Ter
ENST00000682460.1:c.*3280C>A	ENSP00000508334.1:n.*3280C>A
ENST00000682495.1:c.*3515C>A	ENSP00000507166.1:n.*3515C>A
ENST00000682669.1:c.6822C>A	ENSP00000507782.1:p.Tyr2274Ter
ENST00000683186.1:c.*3786C>A	ENSP00000507268.1:n.*3786C>A
ENST00000683496.1:c.*665C>A	ENSP00000506968.1:n.*665C>A
ENST00000683734.1:c.*973C>A	ENSP00000508319.1:n.*973C>A
ENST00000683753.1:n.6069C>A
ENST00000684038.1:c.*3443C>A	ENSP00000507141.1:n.*3443C>A
ENST00000684235.1:c.7023C>A	ENSP00000508295.1:p.Tyr2341Ter
ENST00000261866.12:c.7023C>A MANE Select	ENSP00000261866.7:p.Tyr2341Ter
ENST00000261866.11:c.7023C>A	ENSP00000261866.7:p.Tyr2341Ter
ENST00000427534.6:c.6755-1374C>A	ENSP00000396110.2:n.6755-1374C>A
ENST00000535302.6:c.6684C>A	ENSP00000445278.2:p.Tyr2228Ter
ENST00000558138.1:c.714C>A	ENSP00000453314.1:p.Tyr238Ter
ENST00000559511.5:c.1394C>A
ENST00000560299.1:n.315C>A
NM_001160227.1:c.6684C>A	NP_001153699.1:p.Tyr2228Ter
NM_025137.3:c.7023C>A	NP_079413.3:p.Tyr2341Ter
XM_005254695.3:c.6765C>A	XP_005254752.1:p.Tyr2255Ter
XM_006720700.1:c.6879C>A	XP_006720763.1:p.Tyr2293Ter
XM_017022634.1:c.6915C>A	XP_016878123.1:p.Tyr2305Ter
XM_017022636.1:c.3900C>A	XP_016878125.1:p.Tyr1300Ter
NM_025137.4:c.7023C>A MANE Select	NP_079413.3:p.Tyr2341Ter
NM_001160227.2:c.6684C>A	NP_001153699.1:p.Tyr2228Ter