Canonical Allele Identifier: CA346505617

Gene: SPAST

Linked Data

• ClinVar Variation Id: 536446
• ClinVar RCV Id: RCV000644898 ; RCV001508983
• dbSNP Id: rs1553321237
• MyVariant Identifiers: chr2:g.32379489T>A (hg19) ; chr2:g.32154420T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32154420T>A , CM000664.2:g.32154420T>A	GRCh38
NC_000002.11:g.32379489T>A , CM000664.1:g.32379489T>A	GRCh37
NC_000002.10:g.32232993T>A	NCBI36
NG_008730.1:g.95810T>A , LRG_714:g.95810T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1435T>A	ENSP00000515816.1:n.*1435T>A
ENST00000315285.9:c.1775T>A MANE Select	ENSP00000320885.3:p.Ile592Lys
ENST00000621856.2:c.1772T>A	ENSP00000482496.2:p.Ile591Lys
ENST00000642281.1:c.1512T>A
ENST00000642455.1:c.1676T>A	ENSP00000493827.1:p.Ile559Lys
ENST00000642751.1:c.1478T>A
ENST00000642999.1:c.1517T>A	ENSP00000496589.1:p.Ile506Lys
ENST00000643334.1:c.1355T>A
ENST00000644408.1:c.1674T>A
ENST00000644954.1:c.1421T>A	ENSP00000494312.1:p.Ile474Lys
ENST00000645159.1:n.2512T>A
ENST00000645671.1:c.1154T>A
ENST00000645730.1:c.954T>A
ENST00000646082.1:c.1421T>A
ENST00000646571.1:c.1679T>A	ENSP00000495015.1:p.Ile560Lys
ENST00000647007.1:n.1467T>A
ENST00000647133.1:c.1275T>A
ENST00000315285.7:c.1775T>A	ENSP00000320885.3:p.Ile592Lys
ENST00000345662.5:c.1679T>A	ENSP00000340817.1:p.Ile560Lys
ENST00000615843.4:c.1775T>A	ENSP00000480893.1:p.Ile592Lys
ENST00000621856.1:c.1517T>A	ENSP00000482496.1:p.Ile506Lys
NM_014946.3:c.1775T>A , LRG_714t1:c.1775T>A	NP_055761.2:p.Ile592Lys
NM_199436.1:c.1679T>A	NP_955468.1:p.Ile560Lys
XM_005264516.3:c.1772T>A	XP_005264573.1:p.Ile591Lys
NM_001363823.1:c.1772T>A	NP_001350752.1:p.Ile591Lys
NM_001363875.1:c.1676T>A	NP_001350804.1:p.Ile559Lys
XM_005264516.5:c.1772T>A	XP_005264573.1:p.Ile591Lys
XM_011533067.2:c.*48T>A	XP_011531369.1:n.*48T>A
XM_017004778.2:c.*48T>A	XP_016860267.1:n.*48T>A
NM_001363823.2:c.1772T>A	NP_001350752.1:p.Ile591Lys
NM_001363875.2:c.1676T>A	NP_001350804.1:p.Ile559Lys
NM_001377959.1:c.*48T>A	NP_001364888.1:n.*48T>A
NM_014946.4:c.1775T>A MANE Select	NP_055761.2:p.Ile592Lys
NM_199436.2:c.1679T>A	NP_955468.1:p.Ile560Lys