Canonical Allele Identifier: CA2580066380

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1705331
• ClinVar RCV Id: RCV002283645

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064016dup , CM000664.2:g.32064016dup	GRCh38
NC_000002.11:g.32289085dup , CM000664.1:g.32289085dup	GRCh37
NC_000002.10:g.32142589dup	NCBI36
NG_008730.1:g.5406dup , LRG_714:g.5406dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.185dup	ENSP00000515816.1:p.Leu63AlafsTer?
ENST00000315285.9:c.185dup MANE Select	ENSP00000320885.3:p.Leu63AlafsTer?
ENST00000621856.2:c.185dup	ENSP00000482496.2:p.Leu63AlafsTer?
ENST00000642281.1:c.69dup
ENST00000642455.1:c.185dup	ENSP00000493827.1:p.Leu63AlafsTer?
ENST00000642751.1:c.55dup
ENST00000642999.1:c.-74dup	ENSP00000496589.1:n.-74dup
ENST00000644408.1:c.61dup
ENST00000644954.1:c.-74dup	ENSP00000494312.1:n.-74dup
ENST00000645400.1:c.26dup	ENSP00000496306.1:p.Leu10AlafsTer?
ENST00000646082.1:c.19dup
ENST00000646571.1:c.185dup	ENSP00000495015.1:p.Leu63AlafsTer?
ENST00000315285.7:c.185dup	ENSP00000320885.3:p.Leu63AlafsTer?
ENST00000345662.5:c.185dup	ENSP00000340817.1:p.Leu63AlafsTer?
ENST00000615843.4:c.185dup	ENSP00000480893.1:p.Leu63AlafsTer?
ENST00000621856.1:c.-74dup	ENSP00000482496.1:n.-74dup
NM_014946.3:c.185dup , LRG_714t1:c.185dup	NP_055761.2:p.Leu63AlafsTer?
NM_199436.1:c.185dup	NP_955468.1:p.Leu63AlafsTer?
XM_005264516.3:c.185dup	XP_005264573.1:p.Leu63AlafsTer?
XM_011533067.1:c.185dup	XP_011531369.1:p.Leu63AlafsTer?
NM_001363823.1:c.185dup	NP_001350752.1:p.Leu63AlafsTer?
NM_001363875.1:c.185dup	NP_001350804.1:p.Leu63AlafsTer?
XM_005264516.5:c.185dup	XP_005264573.1:p.Leu63AlafsTer?
XM_011533067.2:c.185dup	XP_011531369.1:p.Leu63AlafsTer?
XM_017004778.2:c.185dup	XP_016860267.1:p.Leu63AlafsTer?
NM_001363823.2:c.185dup	NP_001350752.1:p.Leu63AlafsTer?
NM_001363875.2:c.185dup	NP_001350804.1:p.Leu63AlafsTer?
NM_001377959.1:c.185dup	NP_001364888.1:p.Leu63AlafsTer?
NM_014946.4:c.185dup MANE Select	NP_055761.2:p.Leu63AlafsTer?
NM_199436.2:c.185dup	NP_955468.1:p.Leu63AlafsTer?