Canonical Allele Identifier: CA10581969

Gene: SPAST

Linked Data

• ClinVar Variation Id: 240950
• ClinVar RCV Id: RCV000230990 ; RCV000713467 ; RCV000623007 ; RCV001814125 ; RCV003422150 ; RCV001847990
• dbSNP Id: rs878854991
• gnomAD v4: 2-32141906-G-A
• MyVariant Identifiers: chr2:g.32366975G>A (hg19) ; chr2:g.32141906G>A (hg38)
• PubMed: PMID:10610178 ; PMID:10699187 ; PMID:11309678 ; PMID:14681884 ; PMID:15326248 ; PMID:17100993 ; PMID:17101632 ; PMID:18190593 ; PMID:19453301 ; PMID:20562464 ; PMID:22554690 ; PMID:23122959 ; PMID:23438842 ; PMID:24267886 ; PMID:25065914 ; PMID:25315759 ; PMID:26094131 ; PMID:26208798 ; PMID:26374131 ; PMID:26671083

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32141906G>A , CM000664.2:g.32141906G>A	GRCh38
NC_000002.11:g.32366975G>A , CM000664.1:g.32366975G>A	GRCh37
NC_000002.10:g.32220479G>A	NCBI36
NG_008730.1:g.83296G>A , LRG_714:g.83296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1156G>A	ENSP00000515816.1:n.*1156G>A
ENST00000315285.9:c.1496G>A MANE Select	ENSP00000320885.3:p.Arg499His
ENST00000621856.2:c.1493G>A	ENSP00000482496.2:p.Arg498His
ENST00000642281.1:c.1233G>A
ENST00000642455.1:c.1397G>A	ENSP00000493827.1:p.Arg466His
ENST00000642751.1:c.1270G>A
ENST00000642999.1:c.1238G>A	ENSP00000496589.1:p.Arg413His
ENST00000643327.1:c.563G>A
ENST00000643334.1:c.1076G>A
ENST00000644408.1:c.1372G>A
ENST00000644954.1:c.1142G>A	ENSP00000494312.1:p.Arg381His
ENST00000645159.1:n.2233G>A
ENST00000645671.1:c.946G>A
ENST00000645730.1:c.675G>A
ENST00000646082.1:c.1142G>A
ENST00000646571.1:c.1400G>A	ENSP00000495015.1:p.Arg467His
ENST00000647007.1:n.1188G>A
ENST00000647133.1:c.996G>A
ENST00000315285.7:c.1496G>A	ENSP00000320885.3:p.Arg499His
ENST00000345662.5:c.1400G>A	ENSP00000340817.1:p.Arg467His
ENST00000615843.4:c.1496G>A	ENSP00000480893.1:p.Arg499His
ENST00000621856.1:c.1238G>A	ENSP00000482496.1:p.Arg413His
NM_014946.3:c.1496G>A , LRG_714t1:c.1496G>A	NP_055761.2:p.Arg499His
NM_199436.1:c.1400G>A	NP_955468.1:p.Arg467His
XM_005264516.3:c.1493G>A	XP_005264573.1:p.Arg498His
XM_011533067.1:c.1496G>A	XP_011531369.1:p.Arg499His
NM_001363823.1:c.1493G>A	NP_001350752.1:p.Arg498His
NM_001363875.1:c.1397G>A	NP_001350804.1:p.Arg466His
XM_005264516.5:c.1493G>A	XP_005264573.1:p.Arg498His
XM_011533067.2:c.1496G>A	XP_011531369.1:p.Arg499His
XM_017004778.2:c.1400G>A	XP_016860267.1:p.Arg467His
NM_001363823.2:c.1493G>A	NP_001350752.1:p.Arg498His
NM_001363875.2:c.1397G>A	NP_001350804.1:p.Arg466His
NM_001377959.1:c.1400G>A	NP_001364888.1:p.Arg467His
NM_014946.4:c.1496G>A MANE Select	NP_055761.2:p.Arg499His
NM_199436.2:c.1400G>A	NP_955468.1:p.Arg467His