Canonical Allele Identifier: CA392221604

Gene: SPG11

Linked Data

• dbSNP Id: rs1448442996
• gnomAD v2: 15-44876164-T-C
• gnomAD v4: 15-44583966-T-C
• MyVariant Identifiers: chr15:g.44876164T>C (hg19) ; chr15:g.44583966T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44583966T>C , CM000677.2:g.44583966T>C	GRCh38
NC_000015.9:g.44876164T>C , CM000677.1:g.44876164T>C	GRCh37
NC_000015.8:g.42663456T>C	NCBI36
NG_008885.1:g.84713A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5714A>G	ENSP00000453246.2:p.Asn1905Ser
ENST00000561391.2:n.1942A>G
ENST00000682065.1:c.5570A>G	ENSP00000507025.1:p.Asn1857Ser
ENST00000682460.1:c.*1971A>G	ENSP00000508334.1:n.*1971A>G
ENST00000682495.1:c.*2206A>G	ENSP00000507166.1:n.*2206A>G
ENST00000682669.1:c.5513A>G	ENSP00000507782.1:p.Asn1838Ser
ENST00000683186.1:c.*2477A>G	ENSP00000507268.1:n.*2477A>G
ENST00000683496.1:c.5714A>G	ENSP00000506968.1:p.Asn1905Ser
ENST00000683734.1:c.5714A>G	ENSP00000508319.1:p.Asn1905Ser
ENST00000683753.1:n.4760A>G
ENST00000684038.1:c.*2134A>G	ENSP00000507141.1:n.*2134A>G
ENST00000684235.1:c.5714A>G	ENSP00000508295.1:p.Asn1905Ser
ENST00000684676.1:c.5516-31A>G	ENSP00000506948.1:n.5516-31A>G
ENST00000261866.12:c.5714A>G MANE Select	ENSP00000261866.7:p.Asn1905Ser
ENST00000261866.11:c.5714A>G	ENSP00000261866.7:p.Asn1905Ser
ENST00000427534.6:c.5714A>G	ENSP00000396110.2:p.Asn1905Ser
ENST00000535302.6:c.5714A>G	ENSP00000445278.2:p.Asn1905Ser
ENST00000558319.5:c.5714A>G	ENSP00000453599.1:p.Asn1905Ser
ENST00000559511.5:c.562A>G
ENST00000559822.1:c.288-31A>G
NM_001160227.1:c.5714A>G	NP_001153699.1:p.Asn1905Ser
NM_025137.3:c.5714A>G	NP_079413.3:p.Asn1905Ser
XM_005254695.3:c.5456A>G	XP_005254752.1:p.Asn1819Ser
XM_006720700.1:c.5570A>G	XP_006720763.1:p.Asn1857Ser
XM_017022634.1:c.5714A>G	XP_016878123.1:p.Asn1905Ser
XM_017022636.1:c.2591A>G	XP_016878125.1:p.Asn864Ser
NM_025137.4:c.5714A>G MANE Select	NP_079413.3:p.Asn1905Ser
NM_001160227.2:c.5714A>G	NP_001153699.1:p.Asn1905Ser