Canonical Allele Identifier: CA7534141

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1423835
• ClinVar RCV Id: RCV001929128
• dbSNP Id: rs745801884
• ExAC: 15:44862798 G / A
• gnomAD v2: 15-44862798-G-A
• gnomAD v4: 15-44570600-G-A
• MyVariant Identifiers: chr15:g.44862798G>A (hg19) ; chr15:g.44570600G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44570600G>A , CM000677.2:g.44570600G>A	GRCh38
NC_000015.9:g.44862798G>A , CM000677.1:g.44862798G>A	GRCh37
NC_000015.8:g.42650090G>A	NCBI36
NG_008885.1:g.98079C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558138.2:c.201C>T	ENSP00000453314.2:p.Gly67=
ENST00000559511.6:c.5925C>T	ENSP00000453246.2:p.Gly1975=
ENST00000682065.1:c.6258C>T	ENSP00000507025.1:p.Gly2086=
ENST00000682460.1:c.*2659C>T	ENSP00000508334.1:n.*2659C>T
ENST00000682495.1:c.*2894C>T	ENSP00000507166.1:n.*2894C>T
ENST00000682669.1:c.6201C>T	ENSP00000507782.1:p.Gly2067=
ENST00000683186.1:c.*3165C>T	ENSP00000507268.1:n.*3165C>T
ENST00000683496.1:c.*44C>T	ENSP00000506968.1:n.*44C>T
ENST00000683734.1:c.*352C>T	ENSP00000508319.1:n.*352C>T
ENST00000683753.1:n.5448C>T
ENST00000684038.1:c.*2822C>T	ENSP00000507141.1:n.*2822C>T
ENST00000684235.1:c.6402C>T	ENSP00000508295.1:p.Gly2134=
ENST00000261866.12:c.6402C>T MANE Select	ENSP00000261866.7:p.Gly2134=
ENST00000261866.11:c.6402C>T	ENSP00000261866.7:p.Gly2134=
ENST00000427534.6:c.6402C>T	ENSP00000396110.2:p.Gly2134=
ENST00000535302.6:c.6063C>T	ENSP00000445278.2:p.Gly2021=
ENST00000558138.1:c.201C>T	ENSP00000453314.1:p.Gly67=
ENST00000559347.1:n.231C>T
ENST00000559511.5:c.773C>T
ENST00000559933.1:n.471C>T
ENST00000561268.5:n.275+2083C>T
NM_001160227.1:c.6063C>T	NP_001153699.1:p.Gly2021=
NM_025137.3:c.6402C>T	NP_079413.3:p.Gly2134=
XM_005254695.3:c.6144C>T	XP_005254752.1:p.Gly2048=
XM_006720700.1:c.6258C>T	XP_006720763.1:p.Gly2086=
XM_017022634.1:c.6402C>T	XP_016878123.1:p.Gly2134=
XM_017022636.1:c.3279C>T	XP_016878125.1:p.Gly1093=
NM_025137.4:c.6402C>T MANE Select	NP_079413.3:p.Gly2134=
NM_001160227.2:c.6063C>T	NP_001153699.1:p.Gly2021=