Canonical Allele Identifier: CA346501459

Gene: SPAST

Linked Data

• ClinVar Variation Id: 989109
• ClinVar RCV Id: RCV001391507
• dbSNP Id: rs1553317041
• MyVariant Identifiers: chr2:g.32353522A>C (hg19) ; chr2:g.32128453A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128453A>C , CM000664.2:g.32128453A>C	GRCh38
NC_000002.11:g.32353522A>C , CM000664.1:g.32353522A>C	GRCh37
NC_000002.10:g.32207026A>C	NCBI36
NG_008730.1:g.69843A>C , LRG_714:g.69843A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*879A>C	ENSP00000515816.1:n.*879A>C
ENST00000315285.9:c.1219A>C MANE Select	ENSP00000320885.3:p.Ser407Arg
ENST00000621856.2:c.1216A>C	ENSP00000482496.2:p.Ser406Arg
ENST00000642281.1:c.983-8110A>C
ENST00000642455.1:c.1120A>C	ENSP00000493827.1:p.Ser374Arg
ENST00000642751.1:c.993A>C
ENST00000642999.1:c.961A>C	ENSP00000496589.1:p.Ser321Arg
ENST00000643327.1:c.378A>C
ENST00000643334.1:c.799A>C
ENST00000644408.1:c.1095A>C
ENST00000644954.1:c.865A>C	ENSP00000494312.1:p.Ser289Arg
ENST00000645159.1:n.1956A>C
ENST00000645550.1:n.432A>C
ENST00000645671.1:c.669A>C
ENST00000645730.1:c.566A>C
ENST00000646082.1:c.865A>C
ENST00000646571.1:c.1123A>C	ENSP00000495015.1:p.Ser375Arg
ENST00000647007.1:n.911A>C
ENST00000647133.1:c.719A>C
ENST00000315285.7:c.1219A>C	ENSP00000320885.3:p.Ser407Arg
ENST00000345662.5:c.1123A>C	ENSP00000340817.1:p.Ser375Arg
ENST00000615843.4:c.1219A>C	ENSP00000480893.1:p.Ser407Arg
ENST00000621856.1:c.961A>C	ENSP00000482496.1:p.Ser321Arg
NM_014946.3:c.1219A>C , LRG_714t1:c.1219A>C	NP_055761.2:p.Ser407Arg
NM_199436.1:c.1123A>C	NP_955468.1:p.Ser375Arg
XM_005264516.3:c.1216A>C	XP_005264573.1:p.Ser406Arg
XM_011533067.1:c.1219A>C	XP_011531369.1:p.Ser407Arg
NM_001363823.1:c.1216A>C	NP_001350752.1:p.Ser406Arg
NM_001363875.1:c.1120A>C	NP_001350804.1:p.Ser374Arg
XM_005264516.5:c.1216A>C	XP_005264573.1:p.Ser406Arg
XM_011533067.2:c.1219A>C	XP_011531369.1:p.Ser407Arg
XM_017004778.2:c.1123A>C	XP_016860267.1:p.Ser375Arg
NM_001363823.2:c.1216A>C	NP_001350752.1:p.Ser406Arg
NM_001363875.2:c.1120A>C	NP_001350804.1:p.Ser374Arg
NM_001377959.1:c.1123A>C	NP_001364888.1:p.Ser375Arg
NM_014946.4:c.1219A>C MANE Select	NP_055761.2:p.Ser407Arg
NM_199436.2:c.1123A>C	NP_955468.1:p.Ser375Arg