Canonical Allele Identifier: CA490329451
Gene: SPG11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.44865863A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44573665A>G , CM000677.2:g.44573665A>G GRCh38
NC_000015.9:g.44865863A>G , CM000677.1:g.44865863A>G GRCh37
NC_000015.8:g.42653155A>G NCBI36
NG_008885.1:g.95014T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5867-3007T>C ENSP00000453246.2:n.5867-3007T>C
ENST00000561391.2:n.2315T>C
ENST00000682065.1:c.5943T>C ENSP00000507025.1:p.Pro1981=
ENST00000682460.1:c.*2344T>C ENSP00000508334.1:n.*2344T>C
ENST00000682495.1:c.*2579T>C ENSP00000507166.1:n.*2579T>C
ENST00000682669.1:c.5886T>C ENSP00000507782.1:p.Pro1962=
ENST00000683186.1:c.*2850T>C ENSP00000507268.1:n.*2850T>C
ENST00000683496.1:c.6006+1237T>C ENSP00000506968.1:n.6006+1237T>C
ENST00000683734.1:c.*37T>C ENSP00000508319.1:n.*37T>C
ENST00000683753.1:n.5133T>C
ENST00000684038.1:c.*2507T>C ENSP00000507141.1:n.*2507T>C
ENST00000684235.1:c.6087T>C ENSP00000508295.1:p.Pro2029=
ENST00000684676.1:c.*236T>C ENSP00000506948.1:n.*236T>C
ENST00000261866.12:c.6087T>C MANE Select ENSP00000261866.7:p.Pro2029=
ENST00000261866.11:c.6087T>C ENSP00000261866.7:p.Pro2029=
ENST00000427534.6:c.6087T>C ENSP00000396110.2:p.Pro2029=
ENST00000535302.6:c.5867-845T>C ENSP00000445278.2:n.5867-845T>C
ENST00000558080.1:n.452T>C
ENST00000558319.5:c.6087T>C ENSP00000453599.1:p.Pro2029=
ENST00000559511.5:c.715-3007T>C
ENST00000559933.1:n.156T>C
ENST00000561268.5:n.19T>C
NM_001160227.1:c.5867-845T>C NP_001153699.1:n.5867-845T>C
NM_025137.3:c.6087T>C NP_079413.3:p.Pro2029=
XM_005254695.3:c.5829T>C XP_005254752.1:p.Pro1943=
XM_006720700.1:c.5943T>C XP_006720763.1:p.Pro1981=
XM_017022634.1:c.6087T>C XP_016878123.1:p.Pro2029=
XM_017022636.1:c.2964T>C XP_016878125.1:p.Pro988=
NM_025137.4:c.6087T>C MANE Select NP_079413.3:p.Pro2029=
NM_001160227.2:c.5867-845T>C NP_001153699.1:n.5867-845T>C