Canonical Allele Identifier: CA346501213

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1056688
• ClinVar RCV Id: RCV001365555
• dbSNP Id: rs2148744904
• MyVariant Identifiers: chr2:g.32352026G>T (hg19) ; chr2:g.32126957G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126957G>T , CM000664.2:g.32126957G>T	GRCh38
NC_000002.11:g.32352026G>T , CM000664.1:g.32352026G>T	GRCh37
NC_000002.10:g.32205530G>T	NCBI36
NG_008730.1:g.68347G>T , LRG_714:g.68347G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*768G>T	ENSP00000515816.1:n.*768G>T
ENST00000315285.9:c.1108G>T MANE Select	ENSP00000320885.3:p.Gly370Trp
ENST00000621856.2:c.1105G>T	ENSP00000482496.2:p.Gly369Trp
ENST00000642281.1:c.983-9606G>T
ENST00000642455.1:c.1009G>T	ENSP00000493827.1:p.Gly337Trp
ENST00000642751.1:c.882G>T
ENST00000642999.1:c.850G>T	ENSP00000496589.1:p.Gly284Trp
ENST00000643327.1:c.267G>T
ENST00000643334.1:c.688G>T
ENST00000644408.1:c.984G>T
ENST00000644954.1:c.754G>T	ENSP00000494312.1:p.Gly252Trp
ENST00000645159.1:n.460G>T
ENST00000645550.1:n.321G>T
ENST00000645671.1:c.558G>T
ENST00000645730.1:c.455G>T
ENST00000646082.1:c.754G>T
ENST00000646571.1:c.1012G>T	ENSP00000495015.1:p.Gly338Trp
ENST00000647007.1:n.800G>T
ENST00000647133.1:c.674-1451G>T
ENST00000315285.7:c.1108G>T	ENSP00000320885.3:p.Gly370Trp
ENST00000345662.5:c.1012G>T	ENSP00000340817.1:p.Gly338Trp
ENST00000615843.4:c.1108G>T	ENSP00000480893.1:p.Gly370Trp
ENST00000621856.1:c.850G>T	ENSP00000482496.1:p.Gly284Trp
NM_014946.3:c.1108G>T , LRG_714t1:c.1108G>T	NP_055761.2:p.Gly370Trp
NM_199436.1:c.1012G>T	NP_955468.1:p.Gly338Trp
XM_005264516.3:c.1105G>T	XP_005264573.1:p.Gly369Trp
XM_011533067.1:c.1108G>T	XP_011531369.1:p.Gly370Trp
NM_001363823.1:c.1105G>T	NP_001350752.1:p.Gly369Trp
NM_001363875.1:c.1009G>T	NP_001350804.1:p.Gly337Trp
XM_005264516.5:c.1105G>T	XP_005264573.1:p.Gly369Trp
XM_011533067.2:c.1108G>T	XP_011531369.1:p.Gly370Trp
XM_017004778.2:c.1012G>T	XP_016860267.1:p.Gly338Trp
NM_001363823.2:c.1105G>T	NP_001350752.1:p.Gly369Trp
NM_001363875.2:c.1009G>T	NP_001350804.1:p.Gly337Trp
NM_001377959.1:c.1012G>T	NP_001364888.1:p.Gly338Trp
NM_014946.4:c.1108G>T MANE Select	NP_055761.2:p.Gly370Trp
NM_199436.2:c.1012G>T	NP_955468.1:p.Gly338Trp