Canonical Allele Identifier: CA334245

Gene: SPAST

Linked Data

• ClinVar Variation Id: 188179
• ClinVar RCV Id: RCV000168087 ; RCV000579036 ; RCV001847790
• dbSNP Id: rs786204126
• gnomAD v4: 2-32136608-C-T
• MyVariant Identifiers: chr2:g.32361677C>T (hg19) ; chr2:g.32136608C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136608C>T , CM000664.2:g.32136608C>T	GRCh38
NC_000002.11:g.32361677C>T , CM000664.1:g.32361677C>T	GRCh37
NC_000002.10:g.32215181C>T	NCBI36
NG_008730.1:g.77998C>T , LRG_714:g.77998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*951C>T	ENSP00000515816.1:n.*951C>T
ENST00000315285.9:c.1291C>T MANE Select	ENSP00000320885.3:p.Arg431Ter
ENST00000621856.2:c.1288C>T	ENSP00000482496.2:p.Arg430Ter
ENST00000642281.1:c.1028C>T
ENST00000642455.1:c.1192C>T	ENSP00000493827.1:p.Arg398Ter
ENST00000642751.1:c.1065C>T
ENST00000642999.1:c.1033C>T	ENSP00000496589.1:p.Arg345Ter
ENST00000643327.1:c.450C>T
ENST00000643334.1:c.871C>T
ENST00000644408.1:c.1167C>T
ENST00000644954.1:c.937C>T	ENSP00000494312.1:p.Arg313Ter
ENST00000645159.1:n.2028C>T
ENST00000645671.1:c.741C>T
ENST00000645730.1:c.593-501C>T
ENST00000646082.1:c.937C>T
ENST00000646571.1:c.1195C>T	ENSP00000495015.1:p.Arg399Ter
ENST00000647007.1:n.983C>T
ENST00000647133.1:c.791C>T
ENST00000315285.7:c.1291C>T	ENSP00000320885.3:p.Arg431Ter
ENST00000345662.5:c.1195C>T	ENSP00000340817.1:p.Arg399Ter
ENST00000615843.4:c.1291C>T	ENSP00000480893.1:p.Arg431Ter
ENST00000621856.1:c.1033C>T	ENSP00000482496.1:p.Arg345Ter
NM_014946.3:c.1291C>T , LRG_714t1:c.1291C>T	NP_055761.2:p.Arg431Ter
NM_199436.1:c.1195C>T	NP_955468.1:p.Arg399Ter
XM_005264516.3:c.1288C>T	XP_005264573.1:p.Arg430Ter
XM_011533067.1:c.1291C>T	XP_011531369.1:p.Arg431Ter
NM_001363823.1:c.1288C>T	NP_001350752.1:p.Arg430Ter
NM_001363875.1:c.1192C>T	NP_001350804.1:p.Arg398Ter
XM_005264516.5:c.1288C>T	XP_005264573.1:p.Arg430Ter
XM_011533067.2:c.1291C>T	XP_011531369.1:p.Arg431Ter
XM_017004778.2:c.1195C>T	XP_016860267.1:p.Arg399Ter
NM_001363823.2:c.1288C>T	NP_001350752.1:p.Arg430Ter
NM_001363875.2:c.1192C>T	NP_001350804.1:p.Arg398Ter
NM_001377959.1:c.1195C>T	NP_001364888.1:p.Arg399Ter
NM_014946.4:c.1291C>T MANE Select	NP_055761.2:p.Arg431Ter
NM_199436.2:c.1195C>T	NP_955468.1:p.Arg399Ter