Canonical Allele Identifier: CA346501839

Gene: SPAST

Linked Data

• ClinVar Variation Id: 536439
• ClinVar RCV Id: RCV000644890
• dbSNP Id: rs1553318164
• MyVariant Identifiers: chr2:g.32361638G>T (hg19) ; chr2:g.32136569G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136569G>T , CM000664.2:g.32136569G>T	GRCh38
NC_000002.11:g.32361638G>T , CM000664.1:g.32361638G>T	GRCh37
NC_000002.10:g.32215142G>T	NCBI36
NG_008730.1:g.77959G>T , LRG_714:g.77959G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*912G>T	ENSP00000515816.1:n.*912G>T
ENST00000315285.9:c.1252G>T MANE Select	ENSP00000320885.3:p.Glu418Ter
ENST00000621856.2:c.1249G>T	ENSP00000482496.2:p.Glu417Ter
ENST00000642281.1:c.989G>T
ENST00000642455.1:c.1153G>T	ENSP00000493827.1:p.Glu385Ter
ENST00000642751.1:c.1026G>T
ENST00000642999.1:c.994G>T	ENSP00000496589.1:p.Glu332Ter
ENST00000643327.1:c.411G>T
ENST00000643334.1:c.832G>T
ENST00000644408.1:c.1128G>T
ENST00000644954.1:c.898G>T	ENSP00000494312.1:p.Glu300Ter
ENST00000645159.1:n.1989G>T
ENST00000645671.1:c.702G>T
ENST00000645730.1:c.593-540G>T
ENST00000646082.1:c.898G>T
ENST00000646571.1:c.1156G>T	ENSP00000495015.1:p.Glu386Ter
ENST00000647007.1:n.944G>T
ENST00000647133.1:c.752G>T
ENST00000315285.7:c.1252G>T	ENSP00000320885.3:p.Glu418Ter
ENST00000345662.5:c.1156G>T	ENSP00000340817.1:p.Glu386Ter
ENST00000615843.4:c.1252G>T	ENSP00000480893.1:p.Glu418Ter
ENST00000621856.1:c.994G>T	ENSP00000482496.1:p.Glu332Ter
NM_014946.3:c.1252G>T , LRG_714t1:c.1252G>T	NP_055761.2:p.Glu418Ter
NM_199436.1:c.1156G>T	NP_955468.1:p.Glu386Ter
XM_005264516.3:c.1249G>T	XP_005264573.1:p.Glu417Ter
XM_011533067.1:c.1252G>T	XP_011531369.1:p.Glu418Ter
NM_001363823.1:c.1249G>T	NP_001350752.1:p.Glu417Ter
NM_001363875.1:c.1153G>T	NP_001350804.1:p.Glu385Ter
XM_005264516.5:c.1249G>T	XP_005264573.1:p.Glu417Ter
XM_011533067.2:c.1252G>T	XP_011531369.1:p.Glu418Ter
XM_017004778.2:c.1156G>T	XP_016860267.1:p.Glu386Ter
NM_001363823.2:c.1249G>T	NP_001350752.1:p.Glu417Ter
NM_001363875.2:c.1153G>T	NP_001350804.1:p.Glu385Ter
NM_001377959.1:c.1156G>T	NP_001364888.1:p.Glu386Ter
NM_014946.4:c.1252G>T MANE Select	NP_055761.2:p.Glu418Ter
NM_199436.2:c.1156G>T	NP_955468.1:p.Glu386Ter