Canonical Allele Identifier: CA1029031963

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1968926
• ClinVar RCV Id: RCV002712163
• dbSNP Id: rs1679546070
• gnomAD v3: 2-32136658-C-T
• gnomAD v4: 2-32136658-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136658C>T , CM000664.2:g.32136658C>T	GRCh38
NC_000002.11:g.32361727C>T , CM000664.1:g.32361727C>T	GRCh37
NC_000002.10:g.32215231C>T	NCBI36
NG_008730.1:g.78048C>T , LRG_714:g.78048C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*981+20C>T	ENSP00000515816.1:n.*981+20C>T
ENST00000315285.9:c.1321+20C>T MANE Select	ENSP00000320885.3:n.1321+20C>T
ENST00000621856.2:c.1318+20C>T	ENSP00000482496.2:n.1318+20C>T
ENST00000642281.1:c.1058+20C>T
ENST00000642455.1:c.1222+20C>T	ENSP00000493827.1:n.1222+20C>T
ENST00000642751.1:c.1095+20C>T
ENST00000642999.1:c.1063+20C>T	ENSP00000496589.1:n.1063+20C>T
ENST00000643327.1:c.480+20C>T
ENST00000643334.1:c.901+20C>T
ENST00000644408.1:c.1197+20C>T
ENST00000644954.1:c.967+20C>T	ENSP00000494312.1:n.967+20C>T
ENST00000645159.1:n.2058+20C>T
ENST00000645671.1:c.771+20C>T
ENST00000645730.1:c.593-451C>T
ENST00000646082.1:c.967+20C>T
ENST00000646571.1:c.1225+20C>T	ENSP00000495015.1:n.1225+20C>T
ENST00000647007.1:n.1013+20C>T
ENST00000647133.1:c.821+20C>T
ENST00000315285.7:c.1321+20C>T	ENSP00000320885.3:n.1321+20C>T
ENST00000345662.5:c.1225+20C>T	ENSP00000340817.1:n.1225+20C>T
ENST00000615843.4:c.1321+20C>T	ENSP00000480893.1:n.1321+20C>T
ENST00000621856.1:c.1063+20C>T	ENSP00000482496.1:n.1063+20C>T
NM_014946.3:c.1321+20C>T , LRG_714t1:c.1321+20C>T	NP_055761.2:n.1321+20C>T
NM_199436.1:c.1225+20C>T	NP_955468.1:n.1225+20C>T
XM_005264516.3:c.1318+20C>T	XP_005264573.1:n.1318+20C>T
XM_011533067.1:c.1321+20C>T	XP_011531369.1:n.1321+20C>T
NM_001363823.1:c.1318+20C>T	NP_001350752.1:n.1318+20C>T
NM_001363875.1:c.1222+20C>T	NP_001350804.1:n.1222+20C>T
XM_005264516.5:c.1318+20C>T	XP_005264573.1:n.1318+20C>T
XM_011533067.2:c.1321+20C>T	XP_011531369.1:n.1321+20C>T
XM_017004778.2:c.1225+20C>T	XP_016860267.1:n.1225+20C>T
NM_001363823.2:c.1318+20C>T	NP_001350752.1:n.1318+20C>T
NM_001363875.2:c.1222+20C>T	NP_001350804.1:n.1222+20C>T
NM_001377959.1:c.1225+20C>T	NP_001364888.1:n.1225+20C>T
NM_014946.4:c.1321+20C>T MANE Select	NP_055761.2:n.1321+20C>T
NM_199436.2:c.1225+20C>T	NP_955468.1:n.1225+20C>T