Canonical Allele Identifier: CA346502102

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32361688A>T (hg19) ; chr2:g.32136619A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136619A>T , CM000664.2:g.32136619A>T	GRCh38
NC_000002.11:g.32361688A>T , CM000664.1:g.32361688A>T	GRCh37
NC_000002.10:g.32215192A>T	NCBI36
NG_008730.1:g.78009A>T , LRG_714:g.78009A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*962A>T	ENSP00000515816.1:n.*962A>T
ENST00000315285.9:c.1302A>T MANE Select	ENSP00000320885.3:p.Gln434His
ENST00000621856.2:c.1299A>T	ENSP00000482496.2:p.Gln433His
ENST00000642281.1:c.1039A>T
ENST00000642455.1:c.1203A>T	ENSP00000493827.1:p.Gln401His
ENST00000642751.1:c.1076A>T
ENST00000642999.1:c.1044A>T	ENSP00000496589.1:p.Gln348His
ENST00000643327.1:c.461A>T
ENST00000643334.1:c.882A>T
ENST00000644408.1:c.1178A>T
ENST00000644954.1:c.948A>T	ENSP00000494312.1:p.Gln316His
ENST00000645159.1:n.2039A>T
ENST00000645671.1:c.752A>T
ENST00000645730.1:c.593-490A>T
ENST00000646082.1:c.948A>T
ENST00000646571.1:c.1206A>T	ENSP00000495015.1:p.Gln402His
ENST00000647007.1:n.994A>T
ENST00000647133.1:c.802A>T
ENST00000315285.7:c.1302A>T	ENSP00000320885.3:p.Gln434His
ENST00000345662.5:c.1206A>T	ENSP00000340817.1:p.Gln402His
ENST00000615843.4:c.1302A>T	ENSP00000480893.1:p.Gln434His
ENST00000621856.1:c.1044A>T	ENSP00000482496.1:p.Gln348His
NM_014946.3:c.1302A>T , LRG_714t1:c.1302A>T	NP_055761.2:p.Gln434His
NM_199436.1:c.1206A>T	NP_955468.1:p.Gln402His
XM_005264516.3:c.1299A>T	XP_005264573.1:p.Gln433His
XM_011533067.1:c.1302A>T	XP_011531369.1:p.Gln434His
NM_001363823.1:c.1299A>T	NP_001350752.1:p.Gln433His
NM_001363875.1:c.1203A>T	NP_001350804.1:p.Gln401His
XM_005264516.5:c.1299A>T	XP_005264573.1:p.Gln433His
XM_011533067.2:c.1302A>T	XP_011531369.1:p.Gln434His
XM_017004778.2:c.1206A>T	XP_016860267.1:p.Gln402His
NM_001363823.2:c.1299A>T	NP_001350752.1:p.Gln433His
NM_001363875.2:c.1203A>T	NP_001350804.1:p.Gln401His
NM_001377959.1:c.1206A>T	NP_001364888.1:p.Gln402His
NM_014946.4:c.1302A>T MANE Select	NP_055761.2:p.Gln434His
NM_199436.2:c.1206A>T	NP_955468.1:p.Gln402His