Canonical Allele Identifier: CA346501223

Gene: SPAST

Linked Data

• dbSNP Id: rs1553316807
• MyVariant Identifiers: chr2:g.32352032A>T (hg19) ; chr2:g.32126963A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126963A>T , CM000664.2:g.32126963A>T	GRCh38
NC_000002.11:g.32352032A>T , CM000664.1:g.32352032A>T	GRCh37
NC_000002.10:g.32205536A>T	NCBI36
NG_008730.1:g.68353A>T , LRG_714:g.68353A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*774A>T	ENSP00000515816.1:n.*774A>T
ENST00000315285.9:c.1114A>T MANE Select	ENSP00000320885.3:p.Arg372Ter
ENST00000621856.2:c.1111A>T	ENSP00000482496.2:p.Arg371Ter
ENST00000642281.1:c.983-9600A>T
ENST00000642455.1:c.1015A>T	ENSP00000493827.1:p.Arg339Ter
ENST00000642751.1:c.888A>T
ENST00000642999.1:c.856A>T	ENSP00000496589.1:p.Arg286Ter
ENST00000643327.1:c.273A>T
ENST00000643334.1:c.694A>T
ENST00000644408.1:c.990A>T
ENST00000644954.1:c.760A>T	ENSP00000494312.1:p.Arg254Ter
ENST00000645159.1:n.466A>T
ENST00000645550.1:n.327A>T
ENST00000645671.1:c.564A>T
ENST00000645730.1:c.461A>T
ENST00000646082.1:c.760A>T
ENST00000646571.1:c.1018A>T	ENSP00000495015.1:p.Arg340Ter
ENST00000647007.1:n.806A>T
ENST00000647133.1:c.674-1445A>T
ENST00000315285.7:c.1114A>T	ENSP00000320885.3:p.Arg372Ter
ENST00000345662.5:c.1018A>T	ENSP00000340817.1:p.Arg340Ter
ENST00000615843.4:c.1114A>T	ENSP00000480893.1:p.Arg372Ter
ENST00000621856.1:c.856A>T	ENSP00000482496.1:p.Arg286Ter
NM_014946.3:c.1114A>T , LRG_714t1:c.1114A>T	NP_055761.2:p.Arg372Ter
NM_199436.1:c.1018A>T	NP_955468.1:p.Arg340Ter
XM_005264516.3:c.1111A>T	XP_005264573.1:p.Arg371Ter
XM_011533067.1:c.1114A>T	XP_011531369.1:p.Arg372Ter
NM_001363823.1:c.1111A>T	NP_001350752.1:p.Arg371Ter
NM_001363875.1:c.1015A>T	NP_001350804.1:p.Arg339Ter
XM_005264516.5:c.1111A>T	XP_005264573.1:p.Arg371Ter
XM_011533067.2:c.1114A>T	XP_011531369.1:p.Arg372Ter
XM_017004778.2:c.1018A>T	XP_016860267.1:p.Arg340Ter
NM_001363823.2:c.1111A>T	NP_001350752.1:p.Arg371Ter
NM_001363875.2:c.1015A>T	NP_001350804.1:p.Arg339Ter
NM_001377959.1:c.1018A>T	NP_001364888.1:p.Arg340Ter
NM_014946.4:c.1114A>T MANE Select	NP_055761.2:p.Arg372Ter
NM_199436.2:c.1018A>T	NP_955468.1:p.Arg340Ter