Canonical Allele Identifier: CA392222946

Gene: SPG11

Linked Data

• gnomAD v4: 15-44584425-A-G
• MyVariant Identifiers: chr15:g.44876623A>G (hg19) ; chr15:g.44584425A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584425A>G , CM000677.2:g.44584425A>G	GRCh38
NC_000015.9:g.44876623A>G , CM000677.1:g.44876623A>G	GRCh37
NC_000015.8:g.42663915A>G	NCBI36
NG_008885.1:g.84254T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5255T>C	ENSP00000453246.2:p.Phe1752Ser
ENST00000561391.2:n.1483T>C
ENST00000682065.1:c.5122-11T>C	ENSP00000507025.1:n.5122-11T>C
ENST00000682460.1:c.*1512T>C	ENSP00000508334.1:n.*1512T>C
ENST00000682495.1:c.*1747T>C	ENSP00000507166.1:n.*1747T>C
ENST00000682669.1:c.5054T>C	ENSP00000507782.1:p.Phe1685Ser
ENST00000683186.1:c.*2018T>C	ENSP00000507268.1:n.*2018T>C
ENST00000683496.1:c.5255T>C	ENSP00000506968.1:p.Phe1752Ser
ENST00000683734.1:c.5255T>C	ENSP00000508319.1:p.Phe1752Ser
ENST00000683753.1:n.4301T>C
ENST00000684038.1:c.*1675T>C	ENSP00000507141.1:n.*1675T>C
ENST00000684235.1:c.5255T>C	ENSP00000508295.1:p.Phe1752Ser
ENST00000684676.1:c.5255T>C	ENSP00000506948.1:p.Phe1752Ser
ENST00000261866.12:c.5255T>C MANE Select	ENSP00000261866.7:p.Phe1752Ser
ENST00000261866.11:c.5255T>C	ENSP00000261866.7:p.Phe1752Ser
ENST00000427534.6:c.5255T>C	ENSP00000396110.2:p.Phe1752Ser
ENST00000535302.6:c.5255T>C	ENSP00000445278.2:p.Phe1752Ser
ENST00000558319.5:c.5255T>C	ENSP00000453599.1:p.Phe1752Ser
ENST00000558790.5:n.692T>C
ENST00000559511.5:c.103T>C
ENST00000559822.1:c.27T>C
NM_001160227.1:c.5255T>C	NP_001153699.1:p.Phe1752Ser
NM_025137.3:c.5255T>C	NP_079413.3:p.Phe1752Ser
XM_005254695.3:c.4997T>C	XP_005254752.1:p.Phe1666Ser
XM_006720700.1:c.5122-11T>C	XP_006720763.1:n.5122-11T>C
XM_017022634.1:c.5255T>C	XP_016878123.1:p.Phe1752Ser
XM_017022636.1:c.2132T>C	XP_016878125.1:p.Phe711Ser
XR_931917.2:n.5309T>C
NM_025137.4:c.5255T>C MANE Select	NP_079413.3:p.Phe1752Ser
NM_001160227.2:c.5255T>C	NP_001153699.1:p.Phe1752Ser