Canonical Allele Identifier: CA392216247

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862732A>C (hg19) ; chr15:g.44570534A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570534A>C , CM000677.2:g.44570534A>C	GRCh38
NC_000015.9:g.44862732A>C , CM000677.1:g.44862732A>C	GRCh37
NC_000015.8:g.42650024A>C	NCBI36
NG_008885.1:g.98145T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.267T>G	ENSP00000453314.2:p.Tyr89Ter
ENST00000559511.6:c.5991T>G	ENSP00000453246.2:p.Tyr1997Ter
ENST00000682065.1:c.6324T>G	ENSP00000507025.1:p.Tyr2108Ter
ENST00000682460.1:c.*2725T>G	ENSP00000508334.1:n.*2725T>G
ENST00000682495.1:c.*2960T>G	ENSP00000507166.1:n.*2960T>G
ENST00000682669.1:c.6267T>G	ENSP00000507782.1:p.Tyr2089Ter
ENST00000683186.1:c.*3231T>G	ENSP00000507268.1:n.*3231T>G
ENST00000683496.1:c.*110T>G	ENSP00000506968.1:n.*110T>G
ENST00000683734.1:c.*418T>G	ENSP00000508319.1:n.*418T>G
ENST00000683753.1:n.5514T>G
ENST00000684038.1:c.*2888T>G	ENSP00000507141.1:n.*2888T>G
ENST00000684235.1:c.6468T>G	ENSP00000508295.1:p.Tyr2156Ter
ENST00000261866.12:c.6468T>G MANE Select	ENSP00000261866.7:p.Tyr2156Ter
ENST00000261866.11:c.6468T>G	ENSP00000261866.7:p.Tyr2156Ter
ENST00000427534.6:c.6468T>G	ENSP00000396110.2:p.Tyr2156Ter
ENST00000535302.6:c.6129T>G	ENSP00000445278.2:p.Tyr2043Ter
ENST00000558138.1:c.267T>G	ENSP00000453314.1:p.Tyr89Ter
ENST00000559347.1:n.297T>G
ENST00000559511.5:c.839T>G
ENST00000561268.5:n.275+2149T>G
NM_001160227.1:c.6129T>G	NP_001153699.1:p.Tyr2043Ter
NM_025137.3:c.6468T>G	NP_079413.3:p.Tyr2156Ter
XM_005254695.3:c.6210T>G	XP_005254752.1:p.Tyr2070Ter
XM_006720700.1:c.6324T>G	XP_006720763.1:p.Tyr2108Ter
XM_017022634.1:c.6468T>G	XP_016878123.1:p.Tyr2156Ter
XM_017022636.1:c.3345T>G	XP_016878125.1:p.Tyr1115Ter
NM_025137.4:c.6468T>G MANE Select	NP_079413.3:p.Tyr2156Ter
NM_001160227.2:c.6129T>G	NP_001153699.1:p.Tyr2043Ter