Canonical Allele Identifier: CA392222764

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44876540C>A (hg19) ; chr15:g.44584342C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584342C>A , CM000677.2:g.44584342C>A	GRCh38
NC_000015.9:g.44876540C>A , CM000677.1:g.44876540C>A	GRCh37
NC_000015.8:g.42663832C>A	NCBI36
NG_008885.1:g.84337G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5338G>T	ENSP00000453246.2:p.Gly1780Trp
ENST00000561391.2:n.1566G>T
ENST00000682065.1:c.5194G>T	ENSP00000507025.1:p.Gly1732Trp
ENST00000682460.1:c.*1595G>T	ENSP00000508334.1:n.*1595G>T
ENST00000682495.1:c.*1830G>T	ENSP00000507166.1:n.*1830G>T
ENST00000682669.1:c.5137G>T	ENSP00000507782.1:p.Gly1713Trp
ENST00000683186.1:c.*2101G>T	ENSP00000507268.1:n.*2101G>T
ENST00000683496.1:c.5338G>T	ENSP00000506968.1:p.Gly1780Trp
ENST00000683734.1:c.5338G>T	ENSP00000508319.1:p.Gly1780Trp
ENST00000683753.1:n.4384G>T
ENST00000684038.1:c.*1758G>T	ENSP00000507141.1:n.*1758G>T
ENST00000684235.1:c.5338G>T	ENSP00000508295.1:p.Gly1780Trp
ENST00000684676.1:c.5338G>T	ENSP00000506948.1:p.Gly1780Trp
ENST00000261866.12:c.5338G>T MANE Select	ENSP00000261866.7:p.Gly1780Trp
ENST00000261866.11:c.5338G>T	ENSP00000261866.7:p.Gly1780Trp
ENST00000427534.6:c.5338G>T	ENSP00000396110.2:p.Gly1780Trp
ENST00000535302.6:c.5338G>T	ENSP00000445278.2:p.Gly1780Trp
ENST00000558319.5:c.5338G>T	ENSP00000453599.1:p.Gly1780Trp
ENST00000558790.5:n.775G>T
ENST00000559511.5:c.186G>T
ENST00000559822.1:c.110G>T
NM_001160227.1:c.5338G>T	NP_001153699.1:p.Gly1780Trp
NM_025137.3:c.5338G>T	NP_079413.3:p.Gly1780Trp
XM_005254695.3:c.5080G>T	XP_005254752.1:p.Gly1694Trp
XM_006720700.1:c.5194G>T	XP_006720763.1:p.Gly1732Trp
XM_017022634.1:c.5338G>T	XP_016878123.1:p.Gly1780Trp
XM_017022636.1:c.2215G>T	XP_016878125.1:p.Gly739Trp
XR_931917.2:n.5392G>T
NM_025137.4:c.5338G>T MANE Select	NP_079413.3:p.Gly1780Trp
NM_001160227.2:c.5338G>T	NP_001153699.1:p.Gly1780Trp