Canonical Allele Identifier: CA392222773

Gene: SPG11

Linked Data

• gnomAD v4: 15-44584346-C-G
• MyVariant Identifiers: chr15:g.44876544C>G (hg19) ; chr15:g.44584346C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584346C>G , CM000677.2:g.44584346C>G	GRCh38
NC_000015.9:g.44876544C>G , CM000677.1:g.44876544C>G	GRCh37
NC_000015.8:g.42663836C>G	NCBI36
NG_008885.1:g.84333G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5334G>C	ENSP00000453246.2:p.Leu1778Phe
ENST00000561391.2:n.1562G>C
ENST00000682065.1:c.5190G>C	ENSP00000507025.1:p.Leu1730Phe
ENST00000682460.1:c.*1591G>C	ENSP00000508334.1:n.*1591G>C
ENST00000682495.1:c.*1826G>C	ENSP00000507166.1:n.*1826G>C
ENST00000682669.1:c.5133G>C	ENSP00000507782.1:p.Leu1711Phe
ENST00000683186.1:c.*2097G>C	ENSP00000507268.1:n.*2097G>C
ENST00000683496.1:c.5334G>C	ENSP00000506968.1:p.Leu1778Phe
ENST00000683734.1:c.5334G>C	ENSP00000508319.1:p.Leu1778Phe
ENST00000683753.1:n.4380G>C
ENST00000684038.1:c.*1754G>C	ENSP00000507141.1:n.*1754G>C
ENST00000684235.1:c.5334G>C	ENSP00000508295.1:p.Leu1778Phe
ENST00000684676.1:c.5334G>C	ENSP00000506948.1:p.Leu1778Phe
ENST00000261866.12:c.5334G>C MANE Select	ENSP00000261866.7:p.Leu1778Phe
ENST00000261866.11:c.5334G>C	ENSP00000261866.7:p.Leu1778Phe
ENST00000427534.6:c.5334G>C	ENSP00000396110.2:p.Leu1778Phe
ENST00000535302.6:c.5334G>C	ENSP00000445278.2:p.Leu1778Phe
ENST00000558319.5:c.5334G>C	ENSP00000453599.1:p.Leu1778Phe
ENST00000558790.5:n.771G>C
ENST00000559511.5:c.182G>C
ENST00000559822.1:c.106G>C
NM_001160227.1:c.5334G>C	NP_001153699.1:p.Leu1778Phe
NM_025137.3:c.5334G>C	NP_079413.3:p.Leu1778Phe
XM_005254695.3:c.5076G>C	XP_005254752.1:p.Leu1692Phe
XM_006720700.1:c.5190G>C	XP_006720763.1:p.Leu1730Phe
XM_017022634.1:c.5334G>C	XP_016878123.1:p.Leu1778Phe
XM_017022636.1:c.2211G>C	XP_016878125.1:p.Leu737Phe
XR_931917.2:n.5388G>C
NM_025137.4:c.5334G>C MANE Select	NP_079413.3:p.Leu1778Phe
NM_001160227.2:c.5334G>C	NP_001153699.1:p.Leu1778Phe