Canonical Allele Identifier: CA1242461606

Gene: SPAST

Linked Data

• ClinVar Variation Id: 988968
• ClinVar RCV Id: RCV001293029 ; RCV001291565
• dbSNP Id: rs1676388641

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32063898_32063916dup , CM000664.2:g.32063898_32063916dup	GRCh38
NC_000002.11:g.32288967_32288985dup , CM000664.1:g.32288967_32288985dup	GRCh37
NC_000002.10:g.32142471_32142489dup	NCBI36
NG_008730.1:g.5288_5306dup , LRG_714:g.5288_5306dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.67_85dup	ENSP00000515816.1:p.Leu29GlnfsTer25
ENST00000315285.9:c.67_85dup MANE Select	ENSP00000320885.3:p.Leu29GlnfsTer25
ENST00000621856.2:c.67_85dup	ENSP00000482496.2:p.Leu29GlnfsTer25
ENST00000642455.1:c.67_85dup	ENSP00000493827.1:p.Leu29GlnfsTer25
ENST00000646571.1:c.67_85dup	ENSP00000495015.1:p.Leu29GlnfsTer25
ENST00000315285.7:c.67_85dup	ENSP00000320885.3:p.Leu29GlnfsTer25
ENST00000345662.5:c.67_85dup	ENSP00000340817.1:p.Leu29GlnfsTer25
ENST00000615843.4:c.67_85dup	ENSP00000480893.1:p.Leu29GlnfsTer25
NM_014946.3:c.67_85dup , LRG_714t1:c.67_85dup	NP_055761.2:p.Leu29GlnfsTer25
NM_199436.1:c.67_85dup	NP_955468.1:p.Leu29GlnfsTer25
XM_005264516.3:c.67_85dup	XP_005264573.1:p.Leu29GlnfsTer25
XM_011533067.1:c.67_85dup	XP_011531369.1:p.Leu29GlnfsTer25
NM_001363823.1:c.67_85dup	NP_001350752.1:p.Leu29GlnfsTer25
NM_001363875.1:c.67_85dup	NP_001350804.1:p.Leu29GlnfsTer25
XM_005264516.5:c.67_85dup	XP_005264573.1:p.Leu29GlnfsTer25
XM_011533067.2:c.67_85dup	XP_011531369.1:p.Leu29GlnfsTer25
XM_017004778.2:c.67_85dup	XP_016860267.1:p.Leu29GlnfsTer25
NM_001363823.2:c.67_85dup	NP_001350752.1:p.Leu29GlnfsTer25
NM_001363875.2:c.67_85dup	NP_001350804.1:p.Leu29GlnfsTer25
NM_001377959.1:c.67_85dup	NP_001364888.1:p.Leu29GlnfsTer25
NM_014946.4:c.67_85dup MANE Select	NP_055761.2:p.Leu29GlnfsTer25
NM_199436.2:c.67_85dup	NP_955468.1:p.Leu29GlnfsTer25