Canonical Allele Identifier: CA2739274305

Gene: SPAST

Linked Data

• ClinVar Variation Id: 2818732
• ClinVar RCV Id: RCV003634760

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064200dup , CM000664.2:g.32064200dup	GRCh38
NC_000002.11:g.32289269dup , CM000664.1:g.32289269dup	GRCh37
NC_000002.10:g.32142773dup	NCBI36
NG_008730.1:g.5590dup , LRG_714:g.5590dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.369dup	ENSP00000515816.1:p.Phe124LeufsTer12
ENST00000315285.9:c.369dup MANE Select	ENSP00000320885.3:p.Phe124LeufsTer12
ENST00000621856.2:c.369dup	ENSP00000482496.2:p.Phe124LeufsTer12
ENST00000642281.1:c.253dup
ENST00000642455.1:c.369dup	ENSP00000493827.1:p.Phe124LeufsTer12
ENST00000642751.1:c.239dup
ENST00000642999.1:c.111dup	ENSP00000496589.1:p.Phe38LeufsTer12
ENST00000644408.1:c.245dup
ENST00000644954.1:c.111dup	ENSP00000494312.1:p.Phe38LeufsTer12
ENST00000645400.1:c.210dup	ENSP00000496306.1:p.Phe71LeufsTer12
ENST00000646082.1:c.203dup
ENST00000646571.1:c.369dup	ENSP00000495015.1:p.Phe124LeufsTer12
ENST00000315285.7:c.369dup	ENSP00000320885.3:p.Phe124LeufsTer12
ENST00000345662.5:c.369dup	ENSP00000340817.1:p.Phe124LeufsTer12
ENST00000615843.4:c.369dup	ENSP00000480893.1:p.Phe124LeufsTer12
ENST00000621856.1:c.111dup	ENSP00000482496.1:p.Phe38LeufsTer12
NM_014946.3:c.369dup , LRG_714t1:c.369dup	NP_055761.2:p.Phe124LeufsTer12
NM_199436.1:c.369dup	NP_955468.1:p.Phe124LeufsTer12
XM_005264516.3:c.369dup	XP_005264573.1:p.Phe124LeufsTer12
XM_011533067.1:c.369dup	XP_011531369.1:p.Phe124LeufsTer12
NM_001363823.1:c.369dup	NP_001350752.1:p.Phe124LeufsTer12
NM_001363875.1:c.369dup	NP_001350804.1:p.Phe124LeufsTer12
XM_005264516.5:c.369dup	XP_005264573.1:p.Phe124LeufsTer12
XM_011533067.2:c.369dup	XP_011531369.1:p.Phe124LeufsTer12
XM_017004778.2:c.369dup	XP_016860267.1:p.Phe124LeufsTer12
NM_001363823.2:c.369dup	NP_001350752.1:p.Phe124LeufsTer12
NM_001363875.2:c.369dup	NP_001350804.1:p.Phe124LeufsTer12
NM_001377959.1:c.369dup	NP_001364888.1:p.Phe124LeufsTer12
NM_014946.4:c.369dup MANE Select	NP_055761.2:p.Phe124LeufsTer12
NM_199436.2:c.369dup	NP_955468.1:p.Phe124LeufsTer12