Canonical Allele Identifier: CA346501226

Gene: SPAST

Linked Data

• ClinVar Variation Id: 448439
• ClinVar RCV Id: RCV000644904 ; RCV002473041
• dbSNP Id: rs1425976342
• MyVariant Identifiers: chr2:g.32352034A>C (hg19) ; chr2:g.32126965A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126965A>C , CM000664.2:g.32126965A>C	GRCh38
NC_000002.11:g.32352034A>C , CM000664.1:g.32352034A>C	GRCh37
NC_000002.10:g.32205538A>C	NCBI36
NG_008730.1:g.68355A>C , LRG_714:g.68355A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*776A>C	ENSP00000515816.1:n.*776A>C
ENST00000315285.9:c.1116A>C MANE Select	ENSP00000320885.3:p.Arg372Ser
ENST00000621856.2:c.1113A>C	ENSP00000482496.2:p.Arg371Ser
ENST00000642281.1:c.983-9598A>C
ENST00000642455.1:c.1017A>C	ENSP00000493827.1:p.Arg339Ser
ENST00000642751.1:c.890A>C
ENST00000642999.1:c.858A>C	ENSP00000496589.1:p.Arg286Ser
ENST00000643327.1:c.275A>C
ENST00000643334.1:c.696A>C
ENST00000644408.1:c.992A>C
ENST00000644954.1:c.762A>C	ENSP00000494312.1:p.Arg254Ser
ENST00000645159.1:n.468A>C
ENST00000645550.1:n.329A>C
ENST00000645671.1:c.566A>C
ENST00000645730.1:c.463A>C
ENST00000646082.1:c.762A>C
ENST00000646571.1:c.1020A>C	ENSP00000495015.1:p.Arg340Ser
ENST00000647007.1:n.808A>C
ENST00000647133.1:c.674-1443A>C
ENST00000315285.7:c.1116A>C	ENSP00000320885.3:p.Arg372Ser
ENST00000345662.5:c.1020A>C	ENSP00000340817.1:p.Arg340Ser
ENST00000615843.4:c.1116A>C	ENSP00000480893.1:p.Arg372Ser
ENST00000621856.1:c.858A>C	ENSP00000482496.1:p.Arg286Ser
NM_014946.3:c.1116A>C , LRG_714t1:c.1116A>C	NP_055761.2:p.Arg372Ser
NM_199436.1:c.1020A>C	NP_955468.1:p.Arg340Ser
XM_005264516.3:c.1113A>C	XP_005264573.1:p.Arg371Ser
XM_011533067.1:c.1116A>C	XP_011531369.1:p.Arg372Ser
NM_001363823.1:c.1113A>C	NP_001350752.1:p.Arg371Ser
NM_001363875.1:c.1017A>C	NP_001350804.1:p.Arg339Ser
XM_005264516.5:c.1113A>C	XP_005264573.1:p.Arg371Ser
XM_011533067.2:c.1116A>C	XP_011531369.1:p.Arg372Ser
XM_017004778.2:c.1020A>C	XP_016860267.1:p.Arg340Ser
NM_001363823.2:c.1113A>C	NP_001350752.1:p.Arg371Ser
NM_001363875.2:c.1017A>C	NP_001350804.1:p.Arg339Ser
NM_001377959.1:c.1020A>C	NP_001364888.1:p.Arg340Ser
NM_014946.4:c.1116A>C MANE Select	NP_055761.2:p.Arg372Ser
NM_199436.2:c.1020A>C	NP_955468.1:p.Arg340Ser