Canonical Allele Identifier: CA346501207

Gene: SPAST

Linked Data

• ClinVar Variation Id: 989106
• ClinVar RCV Id: RCV001391503 ; RCV003482357
• dbSNP Id: rs1553316802
• MyVariant Identifiers: chr2:g.32352023A>C (hg19) ; chr2:g.32126954A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126954A>C , CM000664.2:g.32126954A>C	GRCh38
NC_000002.11:g.32352023A>C , CM000664.1:g.32352023A>C	GRCh37
NC_000002.10:g.32205527A>C	NCBI36
NG_008730.1:g.68344A>C , LRG_714:g.68344A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*765A>C	ENSP00000515816.1:n.*765A>C
ENST00000315285.9:c.1105A>C MANE Select	ENSP00000320885.3:p.Thr369Pro
ENST00000621856.2:c.1102A>C	ENSP00000482496.2:p.Thr368Pro
ENST00000642281.1:c.983-9609A>C
ENST00000642455.1:c.1006A>C	ENSP00000493827.1:p.Thr336Pro
ENST00000642751.1:c.879A>C
ENST00000642999.1:c.847A>C	ENSP00000496589.1:p.Thr283Pro
ENST00000643327.1:c.264A>C
ENST00000643334.1:c.685A>C
ENST00000644408.1:c.981A>C
ENST00000644954.1:c.751A>C	ENSP00000494312.1:p.Thr251Pro
ENST00000645159.1:n.457A>C
ENST00000645550.1:n.318A>C
ENST00000645671.1:c.555A>C
ENST00000645730.1:c.452A>C
ENST00000646082.1:c.751A>C
ENST00000646571.1:c.1009A>C	ENSP00000495015.1:p.Thr337Pro
ENST00000647007.1:n.797A>C
ENST00000647133.1:c.674-1454A>C
ENST00000315285.7:c.1105A>C	ENSP00000320885.3:p.Thr369Pro
ENST00000345662.5:c.1009A>C	ENSP00000340817.1:p.Thr337Pro
ENST00000615843.4:c.1105A>C	ENSP00000480893.1:p.Thr369Pro
ENST00000621856.1:c.847A>C	ENSP00000482496.1:p.Thr283Pro
NM_014946.3:c.1105A>C , LRG_714t1:c.1105A>C	NP_055761.2:p.Thr369Pro
NM_199436.1:c.1009A>C	NP_955468.1:p.Thr337Pro
XM_005264516.3:c.1102A>C	XP_005264573.1:p.Thr368Pro
XM_011533067.1:c.1105A>C	XP_011531369.1:p.Thr369Pro
NM_001363823.1:c.1102A>C	NP_001350752.1:p.Thr368Pro
NM_001363875.1:c.1006A>C	NP_001350804.1:p.Thr336Pro
XM_005264516.5:c.1102A>C	XP_005264573.1:p.Thr368Pro
XM_011533067.2:c.1105A>C	XP_011531369.1:p.Thr369Pro
XM_017004778.2:c.1009A>C	XP_016860267.1:p.Thr337Pro
NM_001363823.2:c.1102A>C	NP_001350752.1:p.Thr368Pro
NM_001363875.2:c.1006A>C	NP_001350804.1:p.Thr336Pro
NM_001377959.1:c.1009A>C	NP_001364888.1:p.Thr337Pro
NM_014946.4:c.1105A>C MANE Select	NP_055761.2:p.Thr369Pro
NM_199436.2:c.1009A>C	NP_955468.1:p.Thr337Pro