Canonical Allele Identifier: CA346501247

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32352044A>T (hg19) ; chr2:g.32126975A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126975A>T , CM000664.2:g.32126975A>T	GRCh38
NC_000002.11:g.32352044A>T , CM000664.1:g.32352044A>T	GRCh37
NC_000002.10:g.32205548A>T	NCBI36
NG_008730.1:g.68365A>T , LRG_714:g.68365A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*786A>T	ENSP00000515816.1:n.*786A>T
ENST00000315285.9:c.1126A>T MANE Select	ENSP00000320885.3:p.Arg376Ter
ENST00000621856.2:c.1123A>T	ENSP00000482496.2:p.Arg375Ter
ENST00000642281.1:c.983-9588A>T
ENST00000642455.1:c.1027A>T	ENSP00000493827.1:p.Arg343Ter
ENST00000642751.1:c.900A>T
ENST00000642999.1:c.868A>T	ENSP00000496589.1:p.Arg290Ter
ENST00000643327.1:c.285A>T
ENST00000643334.1:c.706A>T
ENST00000644408.1:c.1002A>T
ENST00000644954.1:c.772A>T	ENSP00000494312.1:p.Arg258Ter
ENST00000645159.1:n.478A>T
ENST00000645550.1:n.339A>T
ENST00000645671.1:c.576A>T
ENST00000645730.1:c.473A>T
ENST00000646082.1:c.772A>T
ENST00000646571.1:c.1030A>T	ENSP00000495015.1:p.Arg344Ter
ENST00000647007.1:n.818A>T
ENST00000647133.1:c.674-1433A>T
ENST00000315285.7:c.1126A>T	ENSP00000320885.3:p.Arg376Ter
ENST00000345662.5:c.1030A>T	ENSP00000340817.1:p.Arg344Ter
ENST00000615843.4:c.1126A>T	ENSP00000480893.1:p.Arg376Ter
ENST00000621856.1:c.868A>T	ENSP00000482496.1:p.Arg290Ter
NM_014946.3:c.1126A>T , LRG_714t1:c.1126A>T	NP_055761.2:p.Arg376Ter
NM_199436.1:c.1030A>T	NP_955468.1:p.Arg344Ter
XM_005264516.3:c.1123A>T	XP_005264573.1:p.Arg375Ter
XM_011533067.1:c.1126A>T	XP_011531369.1:p.Arg376Ter
NM_001363823.1:c.1123A>T	NP_001350752.1:p.Arg375Ter
NM_001363875.1:c.1027A>T	NP_001350804.1:p.Arg343Ter
XM_005264516.5:c.1123A>T	XP_005264573.1:p.Arg375Ter
XM_011533067.2:c.1126A>T	XP_011531369.1:p.Arg376Ter
XM_017004778.2:c.1030A>T	XP_016860267.1:p.Arg344Ter
NM_001363823.2:c.1123A>T	NP_001350752.1:p.Arg375Ter
NM_001363875.2:c.1027A>T	NP_001350804.1:p.Arg343Ter
NM_001377959.1:c.1030A>T	NP_001364888.1:p.Arg344Ter
NM_014946.4:c.1126A>T MANE Select	NP_055761.2:p.Arg376Ter
NM_199436.2:c.1030A>T	NP_955468.1:p.Arg344Ter