Canonical Allele Identifier: CA392216253

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862734A>G (hg19) ; chr15:g.44570536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570536A>G , CM000677.2:g.44570536A>G	GRCh38
NC_000015.9:g.44862734A>G , CM000677.1:g.44862734A>G	GRCh37
NC_000015.8:g.42650026A>G	NCBI36
NG_008885.1:g.98143T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.265T>C	ENSP00000453314.2:p.Tyr89His
ENST00000559511.6:c.5989T>C	ENSP00000453246.2:p.Tyr1997His
ENST00000682065.1:c.6322T>C	ENSP00000507025.1:p.Tyr2108His
ENST00000682460.1:c.*2723T>C	ENSP00000508334.1:n.*2723T>C
ENST00000682495.1:c.*2958T>C	ENSP00000507166.1:n.*2958T>C
ENST00000682669.1:c.6265T>C	ENSP00000507782.1:p.Tyr2089His
ENST00000683186.1:c.*3229T>C	ENSP00000507268.1:n.*3229T>C
ENST00000683496.1:c.*108T>C	ENSP00000506968.1:n.*108T>C
ENST00000683734.1:c.*416T>C	ENSP00000508319.1:n.*416T>C
ENST00000683753.1:n.5512T>C
ENST00000684038.1:c.*2886T>C	ENSP00000507141.1:n.*2886T>C
ENST00000684235.1:c.6466T>C	ENSP00000508295.1:p.Tyr2156His
ENST00000261866.12:c.6466T>C MANE Select	ENSP00000261866.7:p.Tyr2156His
ENST00000261866.11:c.6466T>C	ENSP00000261866.7:p.Tyr2156His
ENST00000427534.6:c.6466T>C	ENSP00000396110.2:p.Tyr2156His
ENST00000535302.6:c.6127T>C	ENSP00000445278.2:p.Tyr2043His
ENST00000558138.1:c.265T>C	ENSP00000453314.1:p.Tyr89His
ENST00000559347.1:n.295T>C
ENST00000559511.5:c.837T>C
ENST00000561268.5:n.275+2147T>C
NM_001160227.1:c.6127T>C	NP_001153699.1:p.Tyr2043His
NM_025137.3:c.6466T>C	NP_079413.3:p.Tyr2156His
XM_005254695.3:c.6208T>C	XP_005254752.1:p.Tyr2070His
XM_006720700.1:c.6322T>C	XP_006720763.1:p.Tyr2108His
XM_017022634.1:c.6466T>C	XP_016878123.1:p.Tyr2156His
XM_017022636.1:c.3343T>C	XP_016878125.1:p.Tyr1115His
NM_025137.4:c.6466T>C MANE Select	NP_079413.3:p.Tyr2156His
NM_001160227.2:c.6127T>C	NP_001153699.1:p.Tyr2043His