Canonical Allele Identifier: CA392218330

Gene: SPG11

Linked Data

• gnomAD v4: 15-44573666-G-A
• MyVariant Identifiers: chr15:g.44865864G>A (hg19) ; chr15:g.44573666G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573666G>A , CM000677.2:g.44573666G>A	GRCh38
NC_000015.9:g.44865864G>A , CM000677.1:g.44865864G>A	GRCh37
NC_000015.8:g.42653156G>A	NCBI36
NG_008885.1:g.95013C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-3008C>T	ENSP00000453246.2:n.5867-3008C>T
ENST00000561391.2:n.2314C>T
ENST00000682065.1:c.5942C>T	ENSP00000507025.1:p.Pro1981Leu
ENST00000682460.1:c.*2343C>T	ENSP00000508334.1:n.*2343C>T
ENST00000682495.1:c.*2578C>T	ENSP00000507166.1:n.*2578C>T
ENST00000682669.1:c.5885C>T	ENSP00000507782.1:p.Pro1962Leu
ENST00000683186.1:c.*2849C>T	ENSP00000507268.1:n.*2849C>T
ENST00000683496.1:c.6006+1236C>T	ENSP00000506968.1:n.6006+1236C>T
ENST00000683734.1:c.*36C>T	ENSP00000508319.1:n.*36C>T
ENST00000683753.1:n.5132C>T
ENST00000684038.1:c.*2506C>T	ENSP00000507141.1:n.*2506C>T
ENST00000684235.1:c.6086C>T	ENSP00000508295.1:p.Pro2029Leu
ENST00000684676.1:c.*235C>T	ENSP00000506948.1:n.*235C>T
ENST00000261866.12:c.6086C>T MANE Select	ENSP00000261866.7:p.Pro2029Leu
ENST00000261866.11:c.6086C>T	ENSP00000261866.7:p.Pro2029Leu
ENST00000427534.6:c.6086C>T	ENSP00000396110.2:p.Pro2029Leu
ENST00000535302.6:c.5867-846C>T	ENSP00000445278.2:n.5867-846C>T
ENST00000558080.1:n.451C>T
ENST00000558319.5:c.6086C>T	ENSP00000453599.1:p.Pro2029Leu
ENST00000559511.5:c.715-3008C>T
ENST00000559933.1:n.155C>T
ENST00000561268.5:n.18C>T
NM_001160227.1:c.5867-846C>T	NP_001153699.1:n.5867-846C>T
NM_025137.3:c.6086C>T	NP_079413.3:p.Pro2029Leu
XM_005254695.3:c.5828C>T	XP_005254752.1:p.Pro1943Leu
XM_006720700.1:c.5942C>T	XP_006720763.1:p.Pro1981Leu
XM_017022634.1:c.6086C>T	XP_016878123.1:p.Pro2029Leu
XM_017022636.1:c.2963C>T	XP_016878125.1:p.Pro988Leu
NM_025137.4:c.6086C>T MANE Select	NP_079413.3:p.Pro2029Leu
NM_001160227.2:c.5867-846C>T	NP_001153699.1:n.5867-846C>T