Canonical Allele Identifier: CA891843423

Gene: SPAST

Linked Data

• ClinVar Variation Id: 582977
• ClinVar RCV Id: RCV000707183
• dbSNP Id: rs1558337136
• MyVariant Identifiers: chr2:g.32362222_32362223dup (hg19) ; chr2:g.32137153_32137154dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137153_32137154dup , CM000664.2:g.32137153_32137154dup	GRCh38
NC_000002.11:g.32362222_32362223dup , CM000664.1:g.32362222_32362223dup	GRCh37
NC_000002.10:g.32215726_32215727dup	NCBI36
NG_008730.1:g.78543_78544dup , LRG_714:g.78543_78544dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1118_*1119dup	ENSP00000515816.1:n.*1118_*1119dup
ENST00000315285.9:c.1458_1459dup MANE Select	ENSP00000320885.3:p.Asn487IlefsTer?
ENST00000621856.2:c.1455_1456dup	ENSP00000482496.2:p.Asn486IlefsTer?
ENST00000642281.1:c.1195_1196dup
ENST00000642455.1:c.1359_1360dup	ENSP00000493827.1:p.Asn454IlefsTer?
ENST00000642751.1:c.1232_1233dup
ENST00000642999.1:c.1200_1201dup	ENSP00000496589.1:p.Asn401IlefsTer?
ENST00000643327.1:c.525_526dup
ENST00000643334.1:c.1038_1039dup
ENST00000644408.1:c.1334_1335dup
ENST00000644954.1:c.1104_1105dup	ENSP00000494312.1:p.Asn369IlefsTer?
ENST00000645159.1:n.2195_2196dup
ENST00000645671.1:c.908_909dup
ENST00000645730.1:c.637_638dup
ENST00000646082.1:c.1104_1105dup
ENST00000646571.1:c.1362_1363dup	ENSP00000495015.1:p.Asn455IlefsTer?
ENST00000647007.1:n.1150_1151dup
ENST00000647133.1:c.958_959dup
ENST00000315285.7:c.1458_1459dup	ENSP00000320885.3:p.Asn487IlefsTer?
ENST00000345662.5:c.1362_1363dup	ENSP00000340817.1:p.Asn455IlefsTer?
ENST00000615843.4:c.1458_1459dup	ENSP00000480893.1:p.Asn487IlefsTer?
ENST00000621856.1:c.1200_1201dup	ENSP00000482496.1:p.Asn401IlefsTer?
NM_014946.3:c.1458_1459dup , LRG_714t1:c.1458_1459dup	NP_055761.2:p.Asn487IlefsTer?
NM_199436.1:c.1362_1363dup	NP_955468.1:p.Asn455IlefsTer?
XM_005264516.3:c.1455_1456dup	XP_005264573.1:p.Asn486IlefsTer?
XM_011533067.1:c.1458_1459dup	XP_011531369.1:p.Asn487IlefsTer?
NM_001363823.1:c.1455_1456dup	NP_001350752.1:p.Asn486IlefsTer?
NM_001363875.1:c.1359_1360dup	NP_001350804.1:p.Asn454IlefsTer?
XM_005264516.5:c.1455_1456dup	XP_005264573.1:p.Asn486IlefsTer?
XM_011533067.2:c.1458_1459dup	XP_011531369.1:p.Asn487IlefsTer?
XM_017004778.2:c.1362_1363dup	XP_016860267.1:p.Asn455IlefsTer?
NM_001363823.2:c.1455_1456dup	NP_001350752.1:p.Asn486IlefsTer?
NM_001363875.2:c.1359_1360dup	NP_001350804.1:p.Asn454IlefsTer?
NM_001377959.1:c.1362_1363dup	NP_001364888.1:p.Asn455IlefsTer?
NM_014946.4:c.1458_1459dup MANE Select	NP_055761.2:p.Asn487IlefsTer?
NM_199436.2:c.1362_1363dup	NP_955468.1:p.Asn455IlefsTer?