Canonical Allele Identifier: CA346501386

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1916219
• ClinVar RCV Id: RCV002594414
• MyVariant Identifiers: chr2:g.32353489G>C (hg19) ; chr2:g.32128420G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128420G>C , CM000664.2:g.32128420G>C	GRCh38
NC_000002.11:g.32353489G>C , CM000664.1:g.32353489G>C	GRCh37
NC_000002.10:g.32206993G>C	NCBI36
NG_008730.1:g.69810G>C , LRG_714:g.69810G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*846G>C	ENSP00000515816.1:n.*846G>C
ENST00000315285.9:c.1186G>C MANE Select	ENSP00000320885.3:p.Ala396Pro
ENST00000621856.2:c.1183G>C	ENSP00000482496.2:p.Ala395Pro
ENST00000642281.1:c.983-8143G>C
ENST00000642455.1:c.1087G>C	ENSP00000493827.1:p.Ala363Pro
ENST00000642751.1:c.960G>C
ENST00000642999.1:c.928G>C	ENSP00000496589.1:p.Ala310Pro
ENST00000643327.1:c.345G>C
ENST00000643334.1:c.766G>C
ENST00000644408.1:c.1062G>C
ENST00000644954.1:c.832G>C	ENSP00000494312.1:p.Ala278Pro
ENST00000645159.1:n.1923G>C
ENST00000645550.1:n.399G>C
ENST00000645671.1:c.636G>C
ENST00000645730.1:c.533G>C
ENST00000646082.1:c.832G>C
ENST00000646571.1:c.1090G>C	ENSP00000495015.1:p.Ala364Pro
ENST00000647007.1:n.878G>C
ENST00000647133.1:c.686G>C
ENST00000315285.7:c.1186G>C	ENSP00000320885.3:p.Ala396Pro
ENST00000345662.5:c.1090G>C	ENSP00000340817.1:p.Ala364Pro
ENST00000615843.4:c.1186G>C	ENSP00000480893.1:p.Ala396Pro
ENST00000621856.1:c.928G>C	ENSP00000482496.1:p.Ala310Pro
NM_014946.3:c.1186G>C , LRG_714t1:c.1186G>C	NP_055761.2:p.Ala396Pro
NM_199436.1:c.1090G>C	NP_955468.1:p.Ala364Pro
XM_005264516.3:c.1183G>C	XP_005264573.1:p.Ala395Pro
XM_011533067.1:c.1186G>C	XP_011531369.1:p.Ala396Pro
NM_001363823.1:c.1183G>C	NP_001350752.1:p.Ala395Pro
NM_001363875.1:c.1087G>C	NP_001350804.1:p.Ala363Pro
XM_005264516.5:c.1183G>C	XP_005264573.1:p.Ala395Pro
XM_011533067.2:c.1186G>C	XP_011531369.1:p.Ala396Pro
XM_017004778.2:c.1090G>C	XP_016860267.1:p.Ala364Pro
NM_001363823.2:c.1183G>C	NP_001350752.1:p.Ala395Pro
NM_001363875.2:c.1087G>C	NP_001350804.1:p.Ala363Pro
NM_001377959.1:c.1090G>C	NP_001364888.1:p.Ala364Pro
NM_014946.4:c.1186G>C MANE Select	NP_055761.2:p.Ala396Pro
NM_199436.2:c.1090G>C	NP_955468.1:p.Ala364Pro