Canonical Allele Identifier: CA10581970

Gene: SPAST

Linked Data

• ClinVar Variation Id: 240952
• ClinVar RCV Id: RCV000228683 ; RCV002472978
• dbSNP Id: rs878854992
• MyVariant Identifiers: chr2:g.32370064G>C (hg19) ; chr2:g.32144995G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32144995G>C , CM000664.2:g.32144995G>C	GRCh38
NC_000002.11:g.32370064G>C , CM000664.1:g.32370064G>C	GRCh37
NC_000002.10:g.32223568G>C	NCBI36
NG_008730.1:g.86385G>C , LRG_714:g.86385G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1335G>C	ENSP00000515816.1:n.*1335G>C
ENST00000315285.9:c.1675G>C MANE Select	ENSP00000320885.3:p.Gly559Arg
ENST00000621856.2:c.1672G>C	ENSP00000482496.2:p.Gly558Arg
ENST00000642281.1:c.1412G>C
ENST00000642455.1:c.1576G>C	ENSP00000493827.1:p.Gly526Arg
ENST00000642751.1:c.1390+1580G>C
ENST00000642999.1:c.1417G>C	ENSP00000496589.1:p.Gly473Arg
ENST00000643334.1:c.1255G>C
ENST00000644408.1:c.1551G>C
ENST00000644954.1:c.1321G>C	ENSP00000494312.1:p.Gly441Arg
ENST00000645159.1:n.2412G>C
ENST00000645671.1:c.1066+1580G>C
ENST00000645730.1:c.854G>C
ENST00000646082.1:c.1321G>C
ENST00000646571.1:c.1579G>C	ENSP00000495015.1:p.Gly527Arg
ENST00000647007.1:n.1367G>C
ENST00000647133.1:c.1175G>C
ENST00000315285.7:c.1675G>C	ENSP00000320885.3:p.Gly559Arg
ENST00000345662.5:c.1579G>C	ENSP00000340817.1:p.Gly527Arg
ENST00000615843.4:c.1675G>C	ENSP00000480893.1:p.Gly559Arg
ENST00000621856.1:c.1417G>C	ENSP00000482496.1:p.Gly473Arg
NM_014946.3:c.1675G>C , LRG_714t1:c.1675G>C	NP_055761.2:p.Gly559Arg
NM_199436.1:c.1579G>C	NP_955468.1:p.Gly527Arg
XM_005264516.3:c.1672G>C	XP_005264573.1:p.Gly558Arg
XM_011533067.1:c.1616+1580G>C	XP_011531369.1:n.1616+1580G>C
NM_001363823.1:c.1672G>C	NP_001350752.1:p.Gly558Arg
NM_001363875.1:c.1576G>C	NP_001350804.1:p.Gly526Arg
XM_005264516.5:c.1672G>C	XP_005264573.1:p.Gly558Arg
XM_011533067.2:c.1616+1580G>C	XP_011531369.1:n.1616+1580G>C
XM_017004778.2:c.1520+1580G>C	XP_016860267.1:n.1520+1580G>C
NM_001363823.2:c.1672G>C	NP_001350752.1:p.Gly558Arg
NM_001363875.2:c.1576G>C	NP_001350804.1:p.Gly526Arg
NM_001377959.1:c.1520+1580G>C	NP_001364888.1:n.1520+1580G>C
NM_014946.4:c.1675G>C MANE Select	NP_055761.2:p.Gly559Arg
NM_199436.2:c.1579G>C	NP_955468.1:p.Gly527Arg