Canonical Allele Identifier: CA916082175

Gene: SPAST

Linked Data

• ClinVar Variation Id: 847036
• ClinVar RCV Id: RCV001050492 ; RCV001268359
• dbSNP Id: rs1679263902

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128414del , CM000664.2:g.32128414del	GRCh38
NC_000002.11:g.32353483del , CM000664.1:g.32353483del	GRCh37
NC_000002.10:g.32206987del	NCBI36
NG_008730.1:g.69804del , LRG_714:g.69804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*840del	ENSP00000515816.1:n.*840del
ENST00000315285.9:c.1180del MANE Select	ENSP00000320885.3:p.Ala394GlnfsTer2
ENST00000621856.2:c.1177del	ENSP00000482496.2:p.Ala393GlnfsTer2
ENST00000642281.1:c.983-8149del
ENST00000642455.1:c.1081del	ENSP00000493827.1:p.Ala361GlnfsTer2
ENST00000642751.1:c.954del
ENST00000642999.1:c.922del	ENSP00000496589.1:p.Ala308GlnfsTer2
ENST00000643327.1:c.339del
ENST00000643334.1:c.760del
ENST00000644408.1:c.1056del
ENST00000644954.1:c.826del	ENSP00000494312.1:p.Ala276GlnfsTer2
ENST00000645159.1:n.1917del
ENST00000645550.1:n.393del
ENST00000645671.1:c.630del
ENST00000645730.1:c.527del
ENST00000646082.1:c.826del
ENST00000646571.1:c.1084del	ENSP00000495015.1:p.Ala362GlnfsTer2
ENST00000647007.1:n.872del
ENST00000647133.1:c.680del
ENST00000315285.7:c.1180del	ENSP00000320885.3:p.Ala394GlnfsTer2
ENST00000345662.5:c.1084del	ENSP00000340817.1:p.Ala362GlnfsTer2
ENST00000615843.4:c.1180del	ENSP00000480893.1:p.Ala394GlnfsTer2
ENST00000621856.1:c.922del	ENSP00000482496.1:p.Ala308GlnfsTer2
NM_014946.3:c.1180del , LRG_714t1:c.1180del	NP_055761.2:p.Ala394GlnfsTer2
NM_199436.1:c.1084del	NP_955468.1:p.Ala362GlnfsTer2
XM_005264516.3:c.1177del	XP_005264573.1:p.Ala393GlnfsTer2
XM_011533067.1:c.1180del	XP_011531369.1:p.Ala394GlnfsTer2
NM_001363823.1:c.1177del	NP_001350752.1:p.Ala393GlnfsTer2
NM_001363875.1:c.1081del	NP_001350804.1:p.Ala361GlnfsTer2
XM_005264516.5:c.1177del	XP_005264573.1:p.Ala393GlnfsTer2
XM_011533067.2:c.1180del	XP_011531369.1:p.Ala394GlnfsTer2
XM_017004778.2:c.1084del	XP_016860267.1:p.Ala362GlnfsTer2
NM_001363823.2:c.1177del	NP_001350752.1:p.Ala393GlnfsTer2
NM_001363875.2:c.1081del	NP_001350804.1:p.Ala361GlnfsTer2
NM_001377959.1:c.1084del	NP_001364888.1:p.Ala362GlnfsTer2
NM_014946.4:c.1180del MANE Select	NP_055761.2:p.Ala394GlnfsTer2
NM_199436.2:c.1084del	NP_955468.1:p.Ala362GlnfsTer2