Canonical Allele Identifier: CA346603151

Gene: SPAST

Linked Data

• ClinVar Variation Id: 536448
• ClinVar RCV Id: RCV000644900 ; RCV003420132
• dbSNP Id: rs1553399493
• COSMIC: COSM222684
• MyVariant Identifiers: chr2:g.32312589G>A (hg19) ; chr2:g.32087520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32087520G>A , CM000664.2:g.32087520G>A	GRCh38
NC_000002.11:g.32312589G>A , CM000664.1:g.32312589G>A	GRCh37
NC_000002.10:g.32166093G>A	NCBI36
NG_008730.1:g.28910G>A , LRG_714:g.28910G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*104G>A	ENSP00000515816.1:n.*104G>A
ENST00000315285.9:c.444G>A MANE Select	ENSP00000320885.3:p.Trp148Ter
ENST00000621856.2:c.441G>A	ENSP00000482496.2:p.Trp147Ter
ENST00000642281.1:c.328G>A
ENST00000642455.1:c.441G>A	ENSP00000493827.1:p.Trp147Ter
ENST00000642751.1:c.314G>A
ENST00000642999.1:c.186G>A	ENSP00000496589.1:p.Trp62Ter
ENST00000643334.1:c.29G>A
ENST00000644408.1:c.320G>A
ENST00000644954.1:c.186G>A	ENSP00000494312.1:p.Trp62Ter
ENST00000645400.1:c.400G>A	ENSP00000496306.1:n.400G>A
ENST00000645671.1:c.37-11276G>A
ENST00000646082.1:c.278G>A
ENST00000646571.1:c.444G>A	ENSP00000495015.1:p.Trp148Ter
ENST00000647007.1:n.141G>A
ENST00000647133.1:c.19G>A
ENST00000315285.7:c.444G>A	ENSP00000320885.3:p.Trp148Ter
ENST00000345662.5:c.444G>A	ENSP00000340817.1:p.Trp148Ter
ENST00000615843.4:c.444G>A	ENSP00000480893.1:p.Trp148Ter
ENST00000621856.1:c.186G>A	ENSP00000482496.1:p.Trp62Ter
NM_014946.3:c.444G>A , LRG_714t1:c.444G>A	NP_055761.2:p.Trp148Ter
NM_199436.1:c.444G>A	NP_955468.1:p.Trp148Ter
XM_005264516.3:c.441G>A	XP_005264573.1:p.Trp147Ter
XM_011533067.1:c.444G>A	XP_011531369.1:p.Trp148Ter
NM_001363823.1:c.441G>A	NP_001350752.1:p.Trp147Ter
NM_001363875.1:c.441G>A	NP_001350804.1:p.Trp147Ter
XM_005264516.5:c.441G>A	XP_005264573.1:p.Trp147Ter
XM_011533067.2:c.444G>A	XP_011531369.1:p.Trp148Ter
XM_017004778.2:c.444G>A	XP_016860267.1:p.Trp148Ter
NM_001363823.2:c.441G>A	NP_001350752.1:p.Trp147Ter
NM_001363875.2:c.441G>A	NP_001350804.1:p.Trp147Ter
NM_001377959.1:c.444G>A	NP_001364888.1:p.Trp148Ter
NM_014946.4:c.444G>A MANE Select	NP_055761.2:p.Trp148Ter
NM_199436.2:c.444G>A	NP_955468.1:p.Trp148Ter