Canonical Allele Identifier: CA16610827

Gene: SPAST

Linked Data

• ClinVar Variation Id: 409030
• ClinVar RCV Id: RCV000472388 ; RCV000518279
• dbSNP Id: rs1060502226
• MyVariant Identifiers: chr2:g.32352092G>A (hg19) ; chr2:g.32127023G>A (hg38)
• PubMed: PMID:10699187 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127023G>A , CM000664.2:g.32127023G>A	GRCh38
NC_000002.11:g.32352092G>A , CM000664.1:g.32352092G>A	GRCh37
NC_000002.10:g.32205596G>A	NCBI36
NG_008730.1:g.68413G>A , LRG_714:g.68413G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*833+1G>A	ENSP00000515816.1:n.*833+1G>A
ENST00000315285.9:c.1173+1G>A MANE Select	ENSP00000320885.3:n.1173+1G>A
ENST00000621856.2:c.1170+1G>A	ENSP00000482496.2:n.1170+1G>A
ENST00000642281.1:c.983-9540G>A
ENST00000642455.1:c.1074+1G>A	ENSP00000493827.1:n.1074+1G>A
ENST00000642751.1:c.947+1G>A
ENST00000642999.1:c.915+1G>A	ENSP00000496589.1:n.915+1G>A
ENST00000643327.1:c.332+1G>A
ENST00000643334.1:c.753+1G>A
ENST00000644408.1:c.1049+1G>A
ENST00000644954.1:c.819+1G>A	ENSP00000494312.1:n.819+1G>A
ENST00000645159.1:n.526G>A
ENST00000645550.1:n.386+1G>A
ENST00000645671.1:c.623+1G>A
ENST00000645730.1:c.520+1G>A
ENST00000646082.1:c.819+1G>A
ENST00000646571.1:c.1077+1G>A	ENSP00000495015.1:n.1077+1G>A
ENST00000647007.1:n.865+1G>A
ENST00000647133.1:c.674-1385G>A
ENST00000315285.7:c.1173+1G>A	ENSP00000320885.3:n.1173+1G>A
ENST00000345662.5:c.1077+1G>A	ENSP00000340817.1:n.1077+1G>A
ENST00000615843.4:c.1173+1G>A	ENSP00000480893.1:n.1173+1G>A
ENST00000621856.1:c.915+1G>A	ENSP00000482496.1:n.915+1G>A
NM_014946.3:c.1173+1G>A , LRG_714t1:c.1173+1G>A	NP_055761.2:n.1173+1G>A
NM_199436.1:c.1077+1G>A	NP_955468.1:n.1077+1G>A
XM_005264516.3:c.1170+1G>A	XP_005264573.1:n.1170+1G>A
XM_011533067.1:c.1173+1G>A	XP_011531369.1:n.1173+1G>A
NM_001363823.1:c.1170+1G>A	NP_001350752.1:n.1170+1G>A
NM_001363875.1:c.1074+1G>A	NP_001350804.1:n.1074+1G>A
XM_005264516.5:c.1170+1G>A	XP_005264573.1:n.1170+1G>A
XM_011533067.2:c.1173+1G>A	XP_011531369.1:n.1173+1G>A
XM_017004778.2:c.1077+1G>A	XP_016860267.1:n.1077+1G>A
NM_001363823.2:c.1170+1G>A	NP_001350752.1:n.1170+1G>A
NM_001363875.2:c.1074+1G>A	NP_001350804.1:n.1074+1G>A
NM_001377959.1:c.1077+1G>A	NP_001364888.1:n.1077+1G>A
NM_014946.4:c.1173+1G>A MANE Select	NP_055761.2:n.1173+1G>A
NM_199436.2:c.1077+1G>A	NP_955468.1:n.1077+1G>A