Canonical Allele Identifier: CA392222393

Gene: SPG11

Linked Data

• gnomAD v4: 15-44584173-C-G
• MyVariant Identifiers: chr15:g.44876371C>G (hg19) ; chr15:g.44584173C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584173C>G , CM000677.2:g.44584173C>G	GRCh38
NC_000015.9:g.44876371C>G , CM000677.1:g.44876371C>G	GRCh37
NC_000015.8:g.42663663C>G	NCBI36
NG_008885.1:g.84506G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5507G>C	ENSP00000453246.2:p.Ser1836Thr
ENST00000561391.2:n.1735G>C
ENST00000682065.1:c.5363G>C	ENSP00000507025.1:p.Ser1788Thr
ENST00000682460.1:c.*1764G>C	ENSP00000508334.1:n.*1764G>C
ENST00000682495.1:c.*1999G>C	ENSP00000507166.1:n.*1999G>C
ENST00000682669.1:c.5306G>C	ENSP00000507782.1:p.Ser1769Thr
ENST00000683186.1:c.*2270G>C	ENSP00000507268.1:n.*2270G>C
ENST00000683496.1:c.5507G>C	ENSP00000506968.1:p.Ser1836Thr
ENST00000683734.1:c.5507G>C	ENSP00000508319.1:p.Ser1836Thr
ENST00000683753.1:n.4553G>C
ENST00000684038.1:c.*1927G>C	ENSP00000507141.1:n.*1927G>C
ENST00000684235.1:c.5507G>C	ENSP00000508295.1:p.Ser1836Thr
ENST00000684676.1:c.5507G>C	ENSP00000506948.1:p.Ser1836Thr
ENST00000261866.12:c.5507G>C MANE Select	ENSP00000261866.7:p.Ser1836Thr
ENST00000261866.11:c.5507G>C	ENSP00000261866.7:p.Ser1836Thr
ENST00000427534.6:c.5507G>C	ENSP00000396110.2:p.Ser1836Thr
ENST00000535302.6:c.5507G>C	ENSP00000445278.2:p.Ser1836Thr
ENST00000558319.5:c.5507G>C	ENSP00000453599.1:p.Ser1836Thr
ENST00000559511.5:c.355G>C
ENST00000559822.1:c.279G>C
NM_001160227.1:c.5507G>C	NP_001153699.1:p.Ser1836Thr
NM_025137.3:c.5507G>C	NP_079413.3:p.Ser1836Thr
XM_005254695.3:c.5249G>C	XP_005254752.1:p.Ser1750Thr
XM_006720700.1:c.5363G>C	XP_006720763.1:p.Ser1788Thr
XM_017022634.1:c.5507G>C	XP_016878123.1:p.Ser1836Thr
XM_017022636.1:c.2384G>C	XP_016878125.1:p.Ser795Thr
NM_025137.4:c.5507G>C MANE Select	NP_079413.3:p.Ser1836Thr
NM_001160227.2:c.5507G>C	NP_001153699.1:p.Ser1836Thr