Canonical Allele Identifier: CA1242505911

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32145005G= , CM000664.2:g.32145005G=	GRCh38
NC_000002.11:g.32370074G= , CM000664.1:g.32370074G=	GRCh37
NC_000002.10:g.32223578G=	NCBI36
NG_008730.1:g.86395G= , LRG_714:g.86395G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1345G=	ENSP00000515816.1:n.*1345G=
ENST00000315285.9:c.1685G= MANE Select	ENSP00000320885.3:p.Arg562=
ENST00000621856.2:c.1682G=	ENSP00000482496.2:p.Arg561=
ENST00000642281.1:c.1422G=
ENST00000642455.1:c.1586G=	ENSP00000493827.1:p.Arg529=
ENST00000642751.1:c.1390+1590G=
ENST00000642999.1:c.1427G=	ENSP00000496589.1:p.Arg476=
ENST00000643334.1:c.1265G=
ENST00000644408.1:c.1561G=
ENST00000644954.1:c.1331G=	ENSP00000494312.1:p.Arg444=
ENST00000645159.1:n.2422G=
ENST00000645671.1:c.1066+1590G=
ENST00000645730.1:c.864G=
ENST00000646082.1:c.1331G=
ENST00000646571.1:c.1589G=	ENSP00000495015.1:p.Arg530=
ENST00000647007.1:n.1377G=
ENST00000647133.1:c.1185G=
ENST00000315285.7:c.1685G=	ENSP00000320885.3:p.Arg562=
ENST00000345662.5:c.1589G=	ENSP00000340817.1:p.Arg530=
ENST00000615843.4:c.1685G=	ENSP00000480893.1:p.Arg562=
ENST00000621856.1:c.1427G=	ENSP00000482496.1:p.Arg476=
NM_014946.3:c.1685G= , LRG_714t1:c.1685G=	NP_055761.2:p.Arg562=
NM_199436.1:c.1589G=	NP_955468.1:p.Arg530=
XM_005264516.3:c.1682G=	XP_005264573.1:p.Arg561=
XM_011533067.1:c.1616+1590G=	XP_011531369.1:n.1616+1590G=
NM_001363823.1:c.1682G=	NP_001350752.1:p.Arg561=
NM_001363875.1:c.1586G=	NP_001350804.1:p.Arg529=
XM_005264516.5:c.1682G=	XP_005264573.1:p.Arg561=
XM_011533067.2:c.1616+1590G=	XP_011531369.1:n.1616+1590G=
XM_017004778.2:c.1520+1590G=	XP_016860267.1:n.1520+1590G=
NM_001363823.2:c.1682G=	NP_001350752.1:p.Arg561=
NM_001363875.2:c.1586G=	NP_001350804.1:p.Arg529=
NM_001377959.1:c.1520+1590G=	NP_001364888.1:n.1520+1590G=
NM_014946.4:c.1685G= MANE Select	NP_055761.2:p.Arg562=
NM_199436.2:c.1589G=	NP_955468.1:p.Arg530=