Canonical Allele Identifier: CA346501290

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1405665
• ClinVar RCV Id: RCV001906619
• dbSNP Id: rs2148744995
• MyVariant Identifiers: chr2:g.32352063G>C (hg19) ; chr2:g.32126994G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126994G>C , CM000664.2:g.32126994G>C	GRCh38
NC_000002.11:g.32352063G>C , CM000664.1:g.32352063G>C	GRCh37
NC_000002.10:g.32205567G>C	NCBI36
NG_008730.1:g.68384G>C , LRG_714:g.68384G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*805G>C	ENSP00000515816.1:n.*805G>C
ENST00000315285.9:c.1145G>C MANE Select	ENSP00000320885.3:p.Gly382Ala
ENST00000621856.2:c.1142G>C	ENSP00000482496.2:p.Gly381Ala
ENST00000642281.1:c.983-9569G>C
ENST00000642455.1:c.1046G>C	ENSP00000493827.1:p.Gly349Ala
ENST00000642751.1:c.919G>C
ENST00000642999.1:c.887G>C	ENSP00000496589.1:p.Gly296Ala
ENST00000643327.1:c.304G>C
ENST00000643334.1:c.725G>C
ENST00000644408.1:c.1021G>C
ENST00000644954.1:c.791G>C	ENSP00000494312.1:p.Gly264Ala
ENST00000645159.1:n.497G>C
ENST00000645550.1:n.358G>C
ENST00000645671.1:c.595G>C
ENST00000645730.1:c.492G>C
ENST00000646082.1:c.791G>C
ENST00000646571.1:c.1049G>C	ENSP00000495015.1:p.Gly350Ala
ENST00000647007.1:n.837G>C
ENST00000647133.1:c.674-1414G>C
ENST00000315285.7:c.1145G>C	ENSP00000320885.3:p.Gly382Ala
ENST00000345662.5:c.1049G>C	ENSP00000340817.1:p.Gly350Ala
ENST00000615843.4:c.1145G>C	ENSP00000480893.1:p.Gly382Ala
ENST00000621856.1:c.887G>C	ENSP00000482496.1:p.Gly296Ala
NM_014946.3:c.1145G>C , LRG_714t1:c.1145G>C	NP_055761.2:p.Gly382Ala
NM_199436.1:c.1049G>C	NP_955468.1:p.Gly350Ala
XM_005264516.3:c.1142G>C	XP_005264573.1:p.Gly381Ala
XM_011533067.1:c.1145G>C	XP_011531369.1:p.Gly382Ala
NM_001363823.1:c.1142G>C	NP_001350752.1:p.Gly381Ala
NM_001363875.1:c.1046G>C	NP_001350804.1:p.Gly349Ala
XM_005264516.5:c.1142G>C	XP_005264573.1:p.Gly381Ala
XM_011533067.2:c.1145G>C	XP_011531369.1:p.Gly382Ala
XM_017004778.2:c.1049G>C	XP_016860267.1:p.Gly350Ala
NM_001363823.2:c.1142G>C	NP_001350752.1:p.Gly381Ala
NM_001363875.2:c.1046G>C	NP_001350804.1:p.Gly349Ala
NM_001377959.1:c.1049G>C	NP_001364888.1:p.Gly350Ala
NM_014946.4:c.1145G>C MANE Select	NP_055761.2:p.Gly382Ala
NM_199436.2:c.1049G>C	NP_955468.1:p.Gly350Ala