Canonical Allele Identifier: CA346504340

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32372302A>T (hg19) ; chr2:g.32147233A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32147233A>T , CM000664.2:g.32147233A>T	GRCh38
NC_000002.11:g.32372302A>T , CM000664.1:g.32372302A>T	GRCh37
NC_000002.10:g.32225806A>T	NCBI36
NG_008730.1:g.88623A>T , LRG_714:g.88623A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1363A>T	ENSP00000515816.1:n.*1363A>T
ENST00000315285.9:c.1703A>T MANE Select	ENSP00000320885.3:p.Gln568Leu
ENST00000621856.2:c.1700A>T	ENSP00000482496.2:p.Gln567Leu
ENST00000642281.1:c.1440A>T
ENST00000642455.1:c.1604A>T	ENSP00000493827.1:p.Gln535Leu
ENST00000642751.1:c.1406A>T
ENST00000642999.1:c.1445A>T	ENSP00000496589.1:p.Gln482Leu
ENST00000643334.1:c.1283A>T
ENST00000644408.1:c.1602A>T
ENST00000644954.1:c.1349A>T	ENSP00000494312.1:p.Gln450Leu
ENST00000645159.1:n.2440A>T
ENST00000645671.1:c.1082A>T
ENST00000645730.1:c.882A>T
ENST00000646082.1:c.1349A>T
ENST00000646571.1:c.1607A>T	ENSP00000495015.1:p.Gln536Leu
ENST00000647007.1:n.1395A>T
ENST00000647133.1:c.1203A>T
ENST00000315285.7:c.1703A>T	ENSP00000320885.3:p.Gln568Leu
ENST00000345662.5:c.1607A>T	ENSP00000340817.1:p.Gln536Leu
ENST00000615843.4:c.1703A>T	ENSP00000480893.1:p.Gln568Leu
ENST00000621856.1:c.1445A>T	ENSP00000482496.1:p.Gln482Leu
NM_014946.3:c.1703A>T , LRG_714t1:c.1703A>T	NP_055761.2:p.Gln568Leu
NM_199436.1:c.1607A>T	NP_955468.1:p.Gln536Leu
XM_005264516.3:c.1700A>T	XP_005264573.1:p.Gln567Leu
XM_011533067.1:c.1632A>T	XP_011531369.1:p.Thr544=
NM_001363823.1:c.1700A>T	NP_001350752.1:p.Gln567Leu
NM_001363875.1:c.1604A>T	NP_001350804.1:p.Gln535Leu
XM_005264516.5:c.1700A>T	XP_005264573.1:p.Gln567Leu
XM_011533067.2:c.1632A>T	XP_011531369.1:p.Thr544=
XM_017004778.2:c.1536A>T	XP_016860267.1:p.Thr512=
NM_001363823.2:c.1700A>T	NP_001350752.1:p.Gln567Leu
NM_001363875.2:c.1604A>T	NP_001350804.1:p.Gln535Leu
NM_001377959.1:c.1536A>T	NP_001364888.1:p.Thr512=
NM_014946.4:c.1703A>T MANE Select	NP_055761.2:p.Gln568Leu
NM_199436.2:c.1607A>T	NP_955468.1:p.Gln536Leu