Canonical Allele Identifier: CA10615315

Gene: SPAST

Linked Data

• ClinVar Variation Id: 335835
• ClinVar RCV Id: RCV000309433
• dbSNP Id: rs886055962
• MyVariant Identifiers: chr2:g.32379458T>C (hg19) ; chr2:g.32154389T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32154389T>C , CM000664.2:g.32154389T>C	GRCh38
NC_000002.11:g.32379458T>C , CM000664.1:g.32379458T>C	GRCh37
NC_000002.10:g.32232962T>C	NCBI36
NG_008730.1:g.95779T>C , LRG_714:g.95779T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1404T>C	ENSP00000515816.1:n.*1404T>C
ENST00000315285.9:c.1744T>C MANE Select	ENSP00000320885.3:p.Leu582=
ENST00000621856.2:c.1741T>C	ENSP00000482496.2:p.Leu581=
ENST00000642281.1:c.1481T>C
ENST00000642455.1:c.1645T>C	ENSP00000493827.1:p.Leu549=
ENST00000642751.1:c.1447T>C
ENST00000642999.1:c.1486T>C	ENSP00000496589.1:p.Leu496=
ENST00000643334.1:c.1324T>C
ENST00000644408.1:c.1643T>C
ENST00000644954.1:c.1390T>C	ENSP00000494312.1:p.Leu464=
ENST00000645159.1:n.2481T>C
ENST00000645671.1:c.1123T>C
ENST00000645730.1:c.923T>C
ENST00000646082.1:c.1390T>C
ENST00000646571.1:c.1648T>C	ENSP00000495015.1:p.Leu550=
ENST00000647007.1:n.1436T>C
ENST00000647133.1:c.1244T>C
ENST00000315285.7:c.1744T>C	ENSP00000320885.3:p.Leu582=
ENST00000345662.5:c.1648T>C	ENSP00000340817.1:p.Leu550=
ENST00000615843.4:c.1744T>C	ENSP00000480893.1:p.Leu582=
ENST00000621856.1:c.1486T>C	ENSP00000482496.1:p.Leu496=
NM_014946.3:c.1744T>C , LRG_714t1:c.1744T>C	NP_055761.2:p.Leu582=
NM_199436.1:c.1648T>C	NP_955468.1:p.Leu550=
XM_005264516.3:c.1741T>C	XP_005264573.1:p.Leu581=
XM_011533067.1:c.*17T>C	XP_011531369.1:n.*17T>C
NM_001363823.1:c.1741T>C	NP_001350752.1:p.Leu581=
NM_001363875.1:c.1645T>C	NP_001350804.1:p.Leu549=
XM_005264516.5:c.1741T>C	XP_005264573.1:p.Leu581=
XM_011533067.2:c.*17T>C	XP_011531369.1:n.*17T>C
XM_017004778.2:c.*17T>C	XP_016860267.1:n.*17T>C
NM_001363823.2:c.1741T>C	NP_001350752.1:p.Leu581=
NM_001363875.2:c.1645T>C	NP_001350804.1:p.Leu549=
NM_001377959.1:c.*17T>C	NP_001364888.1:n.*17T>C
NM_014946.4:c.1744T>C MANE Select	NP_055761.2:p.Leu582=
NM_199436.2:c.1648T>C	NP_955468.1:p.Leu550=