Canonical Allele Identifier: CA10581968

Gene: SPAST

Linked Data

• ClinVar Variation Id: 240948
• ClinVar RCV Id: RCV000234461 ; RCV000713464 ; RCV001847989
• dbSNP Id: rs878854990
• gnomAD v4: 2-32136933-C-T
• MyVariant Identifiers: chr2:g.32362002C>T (hg19) ; chr2:g.32136933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136933C>T , CM000664.2:g.32136933C>T	GRCh38
NC_000002.11:g.32362002C>T , CM000664.1:g.32362002C>T	GRCh37
NC_000002.10:g.32215506C>T	NCBI36
NG_008730.1:g.78323C>T , LRG_714:g.78323C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1038C>T	ENSP00000515816.1:n.*1038C>T
ENST00000315285.9:c.1378C>T MANE Select	ENSP00000320885.3:p.Arg460Cys
ENST00000621856.2:c.1375C>T	ENSP00000482496.2:p.Arg459Cys
ENST00000642281.1:c.1115C>T
ENST00000642455.1:c.1279C>T	ENSP00000493827.1:p.Arg427Cys
ENST00000642751.1:c.1152C>T
ENST00000642999.1:c.1120C>T	ENSP00000496589.1:p.Arg374Cys
ENST00000643327.1:c.481-176C>T
ENST00000643334.1:c.958C>T
ENST00000644408.1:c.1254C>T
ENST00000644954.1:c.1024C>T	ENSP00000494312.1:p.Arg342Cys
ENST00000645159.1:n.2115C>T
ENST00000645671.1:c.828C>T
ENST00000645730.1:c.593-176C>T
ENST00000646082.1:c.1024C>T
ENST00000646571.1:c.1282C>T	ENSP00000495015.1:p.Arg428Cys
ENST00000647007.1:n.1070C>T
ENST00000647133.1:c.878C>T
ENST00000315285.7:c.1378C>T	ENSP00000320885.3:p.Arg460Cys
ENST00000345662.5:c.1282C>T	ENSP00000340817.1:p.Arg428Cys
ENST00000615843.4:c.1378C>T	ENSP00000480893.1:p.Arg460Cys
ENST00000621856.1:c.1120C>T	ENSP00000482496.1:p.Arg374Cys
NM_014946.3:c.1378C>T , LRG_714t1:c.1378C>T	NP_055761.2:p.Arg460Cys
NM_199436.1:c.1282C>T	NP_955468.1:p.Arg428Cys
XM_005264516.3:c.1375C>T	XP_005264573.1:p.Arg459Cys
XM_011533067.1:c.1378C>T	XP_011531369.1:p.Arg460Cys
NM_001363823.1:c.1375C>T	NP_001350752.1:p.Arg459Cys
NM_001363875.1:c.1279C>T	NP_001350804.1:p.Arg427Cys
XM_005264516.5:c.1375C>T	XP_005264573.1:p.Arg459Cys
XM_011533067.2:c.1378C>T	XP_011531369.1:p.Arg460Cys
XM_017004778.2:c.1282C>T	XP_016860267.1:p.Arg428Cys
NM_001363823.2:c.1375C>T	NP_001350752.1:p.Arg459Cys
NM_001363875.2:c.1279C>T	NP_001350804.1:p.Arg427Cys
NM_001377959.1:c.1282C>T	NP_001364888.1:p.Arg428Cys
NM_014946.4:c.1378C>T MANE Select	NP_055761.2:p.Arg460Cys
NM_199436.2:c.1282C>T	NP_955468.1:p.Arg428Cys