Canonical Allele Identifier: CA7534129

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570550G>C , CM000677.2:g.44570550G>C	GRCh38
NC_000015.9:g.44862748G>C , CM000677.1:g.44862748G>C	GRCh37
NC_000015.8:g.42650040G>C	NCBI36
NG_008885.1:g.98129C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025137.4:c.6452C>G MANE Select	NP_079413.3:p.Ala2151Gly
ENST00000261866.12:c.6452C>G MANE Select	ENSP00000261866.7:p.Ala2151Gly
NM_001160227.1:c.6113C>G	NP_001153699.1:p.Ala2038Gly
NM_001160227.2:c.6113C>G	NP_001153699.1:p.Ala2038Gly
NM_025137.3:c.6452C>G	NP_079413.3:p.Ala2151Gly
ENST00000261866.11:c.6452C>G	ENSP00000261866.7:p.Ala2151Gly
ENST00000427534.6:c.6452C>G	ENSP00000396110.2:p.Ala2151Gly
ENST00000535302.6:c.6113C>G	ENSP00000445278.2:p.Ala2038Gly
ENST00000558138.1:c.251C>G	ENSP00000453314.1:p.Ala84Gly
ENST00000558138.2:c.251C>G	ENSP00000453314.2:p.Ala84Gly
ENST00000559347.1:n.281C>G
ENST00000559511.5:c.823C>G
ENST00000559511.6:c.5975C>G	ENSP00000453246.2:p.Ala1992Gly
ENST00000561268.5:n.275+2133C>G
ENST00000682065.1:c.6308C>G	ENSP00000507025.1:p.Ala2103Gly
ENST00000682460.1:c.*2709C>G	ENSP00000508334.1:n.*2709C>G
ENST00000682495.1:c.*2944C>G	ENSP00000507166.1:n.*2944C>G
ENST00000682669.1:c.6251C>G	ENSP00000507782.1:p.Ala2084Gly
ENST00000683186.1:c.*3215C>G	ENSP00000507268.1:n.*3215C>G
ENST00000683496.1:c.*94C>G	ENSP00000506968.1:n.*94C>G
ENST00000683734.1:c.*402C>G	ENSP00000508319.1:n.*402C>G
ENST00000683753.1:n.5498C>G
ENST00000684038.1:c.*2872C>G	ENSP00000507141.1:n.*2872C>G
ENST00000684235.1:c.6452C>G	ENSP00000508295.1:p.Ala2151Gly
XM_005254695.3:c.6194C>G	XP_005254752.1:p.Ala2065Gly
XM_006720700.1:c.6308C>G	XP_006720763.1:p.Ala2103Gly
XM_017022634.1:c.6452C>G	XP_016878123.1:p.Ala2151Gly
XM_017022636.1:c.3329C>G	XP_016878125.1:p.Ala1110Gly