Canonical Allele Identifier: CA531500381

Gene: SPAST

Linked Data

• dbSNP Id: rs1194975479
• gnomAD v2: 2-32351714-A-AT
• gnomAD v3: 2-32126645-A-AT
• gnomAD v4: 2-32126645-A-AT
• COSMIC: COSN18755404
• MyVariant Identifiers: chr2:g.32351715_32351716insT (hg19) ; chr2:g.32351714_32351715insT (hg19) ; chr2:g.32126646_32126647insT (hg38) ; chr2:g.32126645_32126646insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126659dup , CM000664.2:g.32126659dup	GRCh38
NC_000002.11:g.32351728dup , CM000664.1:g.32351728dup	GRCh37
NC_000002.10:g.32205232dup	NCBI36
NG_008730.1:g.68049dup , LRG_714:g.68049dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*759-289dup	ENSP00000515816.1:n.*759-289dup
ENST00000315285.9:c.1099-289dup MANE Select	ENSP00000320885.3:n.1099-289dup
ENST00000621856.2:c.1096-289dup	ENSP00000482496.2:n.1096-289dup
ENST00000642281.1:c.983-9904dup
ENST00000642455.1:c.1000-289dup	ENSP00000493827.1:n.1000-289dup
ENST00000642751.1:c.873-289dup
ENST00000642999.1:c.841-289dup	ENSP00000496589.1:n.841-289dup
ENST00000643327.1:c.258-289dup
ENST00000643334.1:c.679-289dup
ENST00000644408.1:c.975-289dup
ENST00000644954.1:c.745-289dup	ENSP00000494312.1:n.745-289dup
ENST00000645159.1:n.162dup
ENST00000645550.1:n.23dup
ENST00000645671.1:c.549-289dup
ENST00000645730.1:c.446-289dup
ENST00000646082.1:c.745-289dup
ENST00000646571.1:c.1003-289dup	ENSP00000495015.1:n.1003-289dup
ENST00000647007.1:n.791-289dup
ENST00000647133.1:c.674-1749dup
ENST00000315285.7:c.1099-289dup	ENSP00000320885.3:n.1099-289dup
ENST00000345662.5:c.1003-289dup	ENSP00000340817.1:n.1003-289dup
ENST00000615843.4:c.1099-289dup	ENSP00000480893.1:n.1099-289dup
ENST00000621856.1:c.841-289dup	ENSP00000482496.1:n.841-289dup
NM_014946.3:c.1099-289dup , LRG_714t1:c.1099-289dup	NP_055761.2:n.1099-289dup
NM_199436.1:c.1003-289dup	NP_955468.1:n.1003-289dup
XM_005264516.3:c.1096-289dup	XP_005264573.1:n.1096-289dup
XM_011533067.1:c.1099-289dup	XP_011531369.1:n.1099-289dup
NM_001363823.1:c.1096-289dup	NP_001350752.1:n.1096-289dup
NM_001363875.1:c.1000-289dup	NP_001350804.1:n.1000-289dup
XM_005264516.5:c.1096-289dup	XP_005264573.1:n.1096-289dup
XM_011533067.2:c.1099-289dup	XP_011531369.1:n.1099-289dup
XM_017004778.2:c.1003-289dup	XP_016860267.1:n.1003-289dup
NM_001363823.2:c.1096-289dup	NP_001350752.1:n.1096-289dup
NM_001363875.2:c.1000-289dup	NP_001350804.1:n.1000-289dup
NM_001377959.1:c.1003-289dup	NP_001364888.1:n.1003-289dup
NM_014946.4:c.1099-289dup MANE Select	NP_055761.2:n.1099-289dup
NM_199436.2:c.1003-289dup	NP_955468.1:n.1003-289dup