Canonical Allele Identifier: CA425451338

Gene: SPAST

Linked Data

• ClinVar Variation Id: 488958
• ClinVar RCV Id: RCV000578771 ; RCV000806003
• dbSNP Id: rs1553319093
• MyVariant Identifiers: chr2:g.32367015G>A (hg19) ; chr2:g.32141946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32141946G>A , CM000664.2:g.32141946G>A	GRCh38
NC_000002.11:g.32367015G>A , CM000664.1:g.32367015G>A	GRCh37
NC_000002.10:g.32220519G>A	NCBI36
NG_008730.1:g.83336G>A , LRG_714:g.83336G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1196G>A	ENSP00000515816.1:n.*1196G>A
ENST00000315285.9:c.1536G>A MANE Select	ENSP00000320885.3:p.Glu512=
ENST00000621856.2:c.1533G>A	ENSP00000482496.2:p.Glu511=
ENST00000642281.1:c.1273G>A
ENST00000642455.1:c.1437G>A	ENSP00000493827.1:p.Glu479=
ENST00000642751.1:c.1310G>A
ENST00000642999.1:c.1278G>A	ENSP00000496589.1:p.Glu426=
ENST00000643327.1:c.603G>A
ENST00000643334.1:c.1116G>A
ENST00000644408.1:c.1412G>A
ENST00000644954.1:c.1182G>A	ENSP00000494312.1:p.Glu394=
ENST00000645159.1:n.2273G>A
ENST00000645671.1:c.986G>A
ENST00000645730.1:c.715G>A
ENST00000646082.1:c.1182G>A
ENST00000646571.1:c.1440G>A	ENSP00000495015.1:p.Glu480=
ENST00000647007.1:n.1228G>A
ENST00000647133.1:c.1036G>A
ENST00000315285.7:c.1536G>A	ENSP00000320885.3:p.Glu512=
ENST00000345662.5:c.1440G>A	ENSP00000340817.1:p.Glu480=
ENST00000615843.4:c.1536G>A	ENSP00000480893.1:p.Glu512=
ENST00000621856.1:c.1278G>A	ENSP00000482496.1:p.Glu426=
NM_014946.3:c.1536G>A , LRG_714t1:c.1536G>A	NP_055761.2:p.Glu512=
NM_199436.1:c.1440G>A	NP_955468.1:p.Glu480=
XM_005264516.3:c.1533G>A	XP_005264573.1:p.Glu511=
XM_011533067.1:c.1536G>A	XP_011531369.1:p.Glu512=
NM_001363823.1:c.1533G>A	NP_001350752.1:p.Glu511=
NM_001363875.1:c.1437G>A	NP_001350804.1:p.Glu479=
XM_005264516.5:c.1533G>A	XP_005264573.1:p.Glu511=
XM_011533067.2:c.1536G>A	XP_011531369.1:p.Glu512=
XM_017004778.2:c.1440G>A	XP_016860267.1:p.Glu480=
NM_001363823.2:c.1533G>A	NP_001350752.1:p.Glu511=
NM_001363875.2:c.1437G>A	NP_001350804.1:p.Glu479=
NM_001377959.1:c.1440G>A	NP_001364888.1:p.Glu480=
NM_014946.4:c.1536G>A MANE Select	NP_055761.2:p.Glu512=
NM_199436.2:c.1440G>A	NP_955468.1:p.Glu480=