Canonical Allele Identifier: CA891843419

Gene: SPAST

Linked Data

• ClinVar Variation Id: 586657
• ClinVar RCV Id: RCV000713461
• dbSNP Id: rs1558331940
• MyVariant Identifiers: chr2:g.32353527dup (hg19) ; chr2:g.32128458dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128458dup , CM000664.2:g.32128458dup	GRCh38
NC_000002.11:g.32353527dup , CM000664.1:g.32353527dup	GRCh37
NC_000002.10:g.32207031dup	NCBI36
NG_008730.1:g.69848dup , LRG_714:g.69848dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*884dup	ENSP00000515816.1:n.*884dup
ENST00000315285.9:c.1224dup MANE Select	ENSP00000320885.3:p.Ala409CysfsTer?
ENST00000621856.2:c.1221dup	ENSP00000482496.2:p.Ala408CysfsTer?
ENST00000642281.1:c.983-8105dup
ENST00000642455.1:c.1125dup	ENSP00000493827.1:p.Ala376CysfsTer?
ENST00000642751.1:c.998dup
ENST00000642999.1:c.966dup	ENSP00000496589.1:p.Ala323CysfsTer?
ENST00000643327.1:c.383dup
ENST00000643334.1:c.804dup
ENST00000644408.1:c.1100dup
ENST00000644954.1:c.870dup	ENSP00000494312.1:p.Ala291CysfsTer?
ENST00000645159.1:n.1961dup
ENST00000645550.1:n.437dup
ENST00000645671.1:c.674dup
ENST00000645730.1:c.571dup
ENST00000646082.1:c.870dup
ENST00000646571.1:c.1128dup	ENSP00000495015.1:p.Ala377CysfsTer?
ENST00000647007.1:n.916dup
ENST00000647133.1:c.724dup
ENST00000315285.7:c.1224dup	ENSP00000320885.3:p.Ala409CysfsTer?
ENST00000345662.5:c.1128dup	ENSP00000340817.1:p.Ala377CysfsTer?
ENST00000615843.4:c.1224dup	ENSP00000480893.1:p.Ala409CysfsTer?
ENST00000621856.1:c.966dup	ENSP00000482496.1:p.Ala323CysfsTer?
NM_014946.3:c.1224dup , LRG_714t1:c.1224dup	NP_055761.2:p.Ala409CysfsTer?
NM_199436.1:c.1128dup	NP_955468.1:p.Ala377CysfsTer?
XM_005264516.3:c.1221dup	XP_005264573.1:p.Ala408CysfsTer?
XM_011533067.1:c.1224dup	XP_011531369.1:p.Ala409CysfsTer?
NM_001363823.1:c.1221dup	NP_001350752.1:p.Ala408CysfsTer?
NM_001363875.1:c.1125dup	NP_001350804.1:p.Ala376CysfsTer?
XM_005264516.5:c.1221dup	XP_005264573.1:p.Ala408CysfsTer?
XM_011533067.2:c.1224dup	XP_011531369.1:p.Ala409CysfsTer?
XM_017004778.2:c.1128dup	XP_016860267.1:p.Ala377CysfsTer?
NM_001363823.2:c.1221dup	NP_001350752.1:p.Ala408CysfsTer?
NM_001363875.2:c.1125dup	NP_001350804.1:p.Ala376CysfsTer?
NM_001377959.1:c.1128dup	NP_001364888.1:p.Ala377CysfsTer?
NM_014946.4:c.1224dup MANE Select	NP_055761.2:p.Ala409CysfsTer?
NM_199436.2:c.1128dup	NP_955468.1:p.Ala377CysfsTer?