Canonical Allele Identifier: CA490203030

Gene: SPG11

Linked Data

• MyVariant Identifiers: chr15:g.44862728G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570530G>A , CM000677.2:g.44570530G>A	GRCh38
NC_000015.9:g.44862728G>A , CM000677.1:g.44862728G>A	GRCh37
NC_000015.8:g.42650020G>A	NCBI36
NG_008885.1:g.98149C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.271C>T	ENSP00000453314.2:p.Leu91=
ENST00000559511.6:c.5995C>T	ENSP00000453246.2:p.Leu1999=
ENST00000682065.1:c.6328C>T	ENSP00000507025.1:p.Leu2110=
ENST00000682460.1:c.*2729C>T	ENSP00000508334.1:n.*2729C>T
ENST00000682495.1:c.*2964C>T	ENSP00000507166.1:n.*2964C>T
ENST00000682669.1:c.6271C>T	ENSP00000507782.1:p.Leu2091=
ENST00000683186.1:c.*3235C>T	ENSP00000507268.1:n.*3235C>T
ENST00000683496.1:c.*114C>T	ENSP00000506968.1:n.*114C>T
ENST00000683734.1:c.*422C>T	ENSP00000508319.1:n.*422C>T
ENST00000683753.1:n.5518C>T
ENST00000684038.1:c.*2892C>T	ENSP00000507141.1:n.*2892C>T
ENST00000684235.1:c.6472C>T	ENSP00000508295.1:p.Leu2158=
ENST00000261866.12:c.6472C>T MANE Select	ENSP00000261866.7:p.Leu2158=
ENST00000261866.11:c.6472C>T	ENSP00000261866.7:p.Leu2158=
ENST00000427534.6:c.6472C>T	ENSP00000396110.2:p.Leu2158=
ENST00000535302.6:c.6133C>T	ENSP00000445278.2:p.Leu2045=
ENST00000558138.1:c.271C>T	ENSP00000453314.1:p.Leu91=
ENST00000559347.1:n.301C>T
ENST00000559511.5:c.843C>T
ENST00000561268.5:n.275+2153C>T
NM_001160227.1:c.6133C>T	NP_001153699.1:p.Leu2045=
NM_025137.3:c.6472C>T	NP_079413.3:p.Leu2158=
XM_005254695.3:c.6214C>T	XP_005254752.1:p.Leu2072=
XM_006720700.1:c.6328C>T	XP_006720763.1:p.Leu2110=
XM_017022634.1:c.6472C>T	XP_016878123.1:p.Leu2158=
XM_017022636.1:c.3349C>T	XP_016878125.1:p.Leu1117=
NM_025137.4:c.6472C>T MANE Select	NP_079413.3:p.Leu2158=
NM_001160227.2:c.6133C>T	NP_001153699.1:p.Leu2045=