Canonical Allele Identifier: CA346504308

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32372288A>T (hg19) ; chr2:g.32147219A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32147219A>T , CM000664.2:g.32147219A>T	GRCh38
NC_000002.11:g.32372288A>T , CM000664.1:g.32372288A>T	GRCh37
NC_000002.10:g.32225792A>T	NCBI36
NG_008730.1:g.88609A>T , LRG_714:g.88609A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1349A>T	ENSP00000515816.1:n.*1349A>T
ENST00000315285.9:c.1689A>T MANE Select	ENSP00000320885.3:p.Glu563Asp
ENST00000621856.2:c.1686A>T	ENSP00000482496.2:p.Glu562Asp
ENST00000642281.1:c.1426A>T
ENST00000642455.1:c.1590A>T	ENSP00000493827.1:p.Glu530Asp
ENST00000642751.1:c.1392A>T
ENST00000642999.1:c.1431A>T	ENSP00000496589.1:p.Glu477Asp
ENST00000643334.1:c.1269A>T
ENST00000644408.1:c.1588A>T
ENST00000644954.1:c.1335A>T	ENSP00000494312.1:p.Glu445Asp
ENST00000645159.1:n.2426A>T
ENST00000645671.1:c.1068A>T
ENST00000645730.1:c.868A>T
ENST00000646082.1:c.1335A>T
ENST00000646571.1:c.1593A>T	ENSP00000495015.1:p.Glu531Asp
ENST00000647007.1:n.1381A>T
ENST00000647133.1:c.1189A>T
ENST00000315285.7:c.1689A>T	ENSP00000320885.3:p.Glu563Asp
ENST00000345662.5:c.1593A>T	ENSP00000340817.1:p.Glu531Asp
ENST00000615843.4:c.1689A>T	ENSP00000480893.1:p.Glu563Asp
ENST00000621856.1:c.1431A>T	ENSP00000482496.1:p.Glu477Asp
NM_014946.3:c.1689A>T , LRG_714t1:c.1689A>T	NP_055761.2:p.Glu563Asp
NM_199436.1:c.1593A>T	NP_955468.1:p.Glu531Asp
XM_005264516.3:c.1686A>T	XP_005264573.1:p.Glu562Asp
XM_011533067.1:c.1618A>T	XP_011531369.1:p.Thr540Ser
NM_001363823.1:c.1686A>T	NP_001350752.1:p.Glu562Asp
NM_001363875.1:c.1590A>T	NP_001350804.1:p.Glu530Asp
XM_005264516.5:c.1686A>T	XP_005264573.1:p.Glu562Asp
XM_011533067.2:c.1618A>T	XP_011531369.1:p.Thr540Ser
XM_017004778.2:c.1522A>T	XP_016860267.1:p.Thr508Ser
NM_001363823.2:c.1686A>T	NP_001350752.1:p.Glu562Asp
NM_001363875.2:c.1590A>T	NP_001350804.1:p.Glu530Asp
NM_001377959.1:c.1522A>T	NP_001364888.1:p.Thr508Ser
NM_014946.4:c.1689A>T MANE Select	NP_055761.2:p.Glu563Asp
NM_199436.2:c.1593A>T	NP_955468.1:p.Glu531Asp