Canonical Allele Identifier: CA392217192

Gene: SPG11

Linked Data

• gnomAD v4: 15-44572723-C-A
• MyVariant Identifiers: chr15:g.44864921C>A (hg19) ; chr15:g.44572723C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44572723C>A , CM000677.2:g.44572723C>A	GRCh38
NC_000015.9:g.44864921C>A , CM000677.1:g.44864921C>A	GRCh37
NC_000015.8:g.42652213C>A	NCBI36
NG_008885.1:g.95956G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000558138.2:c.102G>T	ENSP00000453314.2:p.Leu34Phe
ENST00000559511.6:c.5867-2065G>T	ENSP00000453246.2:n.5867-2065G>T
ENST00000682065.1:c.6159G>T	ENSP00000507025.1:p.Leu2053Phe
ENST00000682460.1:c.*2560G>T	ENSP00000508334.1:n.*2560G>T
ENST00000682495.1:c.*2795G>T	ENSP00000507166.1:n.*2795G>T
ENST00000682669.1:c.6102G>T	ENSP00000507782.1:p.Leu2034Phe
ENST00000683186.1:c.*3066G>T	ENSP00000507268.1:n.*3066G>T
ENST00000683496.1:c.6007-2071G>T	ENSP00000506968.1:n.6007-2071G>T
ENST00000683734.1:c.*253G>T	ENSP00000508319.1:n.*253G>T
ENST00000683753.1:n.5349G>T
ENST00000684038.1:c.*2723G>T	ENSP00000507141.1:n.*2723G>T
ENST00000684235.1:c.6303G>T	ENSP00000508295.1:p.Leu2101Phe
ENST00000261866.12:c.6303G>T MANE Select	ENSP00000261866.7:p.Leu2101Phe
ENST00000261866.11:c.6303G>T	ENSP00000261866.7:p.Leu2101Phe
ENST00000427534.6:c.6303G>T	ENSP00000396110.2:p.Leu2101Phe
ENST00000535302.6:c.5964G>T	ENSP00000445278.2:p.Leu1988Phe
ENST00000558138.1:c.102G>T	ENSP00000453314.1:p.Leu34Phe
ENST00000559511.5:c.715-2065G>T
ENST00000559933.1:n.372G>T
ENST00000561268.5:n.235G>T
NM_001160227.1:c.5964G>T	NP_001153699.1:p.Leu1988Phe
NM_025137.3:c.6303G>T	NP_079413.3:p.Leu2101Phe
XM_005254695.3:c.6045G>T	XP_005254752.1:p.Leu2015Phe
XM_006720700.1:c.6159G>T	XP_006720763.1:p.Leu2053Phe
XM_017022634.1:c.6303G>T	XP_016878123.1:p.Leu2101Phe
XM_017022636.1:c.3180G>T	XP_016878125.1:p.Leu1060Phe
NM_025137.4:c.6303G>T MANE Select	NP_079413.3:p.Leu2101Phe
NM_001160227.2:c.5964G>T	NP_001153699.1:p.Leu1988Phe