Canonical Allele Identifier: CA346504394

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32372326A>T (hg19) ; chr2:g.32147257A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32147257A>T , CM000664.2:g.32147257A>T	GRCh38
NC_000002.11:g.32372326A>T , CM000664.1:g.32372326A>T	GRCh37
NC_000002.10:g.32225830A>T	NCBI36
NG_008730.1:g.88647A>T , LRG_714:g.88647A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1387A>T	ENSP00000515816.1:n.*1387A>T
ENST00000315285.9:c.1727A>T MANE Select	ENSP00000320885.3:p.Glu576Val
ENST00000621856.2:c.1724A>T	ENSP00000482496.2:p.Glu575Val
ENST00000642281.1:c.1464A>T
ENST00000642455.1:c.1628A>T	ENSP00000493827.1:p.Glu543Val
ENST00000642751.1:c.1430A>T
ENST00000642999.1:c.1469A>T	ENSP00000496589.1:p.Glu490Val
ENST00000643334.1:c.1307A>T
ENST00000644408.1:c.1626A>T
ENST00000644954.1:c.1373A>T	ENSP00000494312.1:p.Glu458Val
ENST00000645159.1:n.2464A>T
ENST00000645671.1:c.1106A>T
ENST00000645730.1:c.906A>T
ENST00000646082.1:c.1373A>T
ENST00000646571.1:c.1631A>T	ENSP00000495015.1:p.Glu544Val
ENST00000647007.1:n.1419A>T
ENST00000647133.1:c.1227A>T
ENST00000315285.7:c.1727A>T	ENSP00000320885.3:p.Glu576Val
ENST00000345662.5:c.1631A>T	ENSP00000340817.1:p.Glu544Val
ENST00000615843.4:c.1727A>T	ENSP00000480893.1:p.Glu576Val
ENST00000621856.1:c.1469A>T	ENSP00000482496.1:p.Glu490Val
NM_014946.3:c.1727A>T , LRG_714t1:c.1727A>T	NP_055761.2:p.Glu576Val
NM_199436.1:c.1631A>T	NP_955468.1:p.Glu544Val
XM_005264516.3:c.1724A>T	XP_005264573.1:p.Glu575Val
XM_011533067.1:c.1656A>T	XP_011531369.1:p.Ter552Cys
NM_001363823.1:c.1724A>T	NP_001350752.1:p.Glu575Val
NM_001363875.1:c.1628A>T	NP_001350804.1:p.Glu543Val
XM_005264516.5:c.1724A>T	XP_005264573.1:p.Glu575Val
XM_011533067.2:c.1656A>T	XP_011531369.1:p.Ter552Cys
XM_017004778.2:c.1560A>T	XP_016860267.1:p.Ter520Cys
NM_001363823.2:c.1724A>T	NP_001350752.1:p.Glu575Val
NM_001363875.2:c.1628A>T	NP_001350804.1:p.Glu543Val
NM_001377959.1:c.1560A>T	NP_001364888.1:p.Ter520Cys
NM_014946.4:c.1727A>T MANE Select	NP_055761.2:p.Glu576Val
NM_199436.2:c.1631A>T	NP_955468.1:p.Glu544Val