Canonical Allele Identifier: CA1242501568

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136894T= , CM000664.2:g.32136894T=	GRCh38
NC_000002.11:g.32361963T= , CM000664.1:g.32361963T=	GRCh37
NC_000002.10:g.32215467T=	NCBI36
NG_008730.1:g.78284T= , LRG_714:g.78284T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*999T=	ENSP00000515816.1:n.*999T=
ENST00000315285.9:c.1339T= MANE Select	ENSP00000320885.3:p.Leu447=
ENST00000621856.2:c.1336T=	ENSP00000482496.2:p.Leu446=
ENST00000642281.1:c.1076T=
ENST00000642455.1:c.1240T=	ENSP00000493827.1:p.Leu414=
ENST00000642751.1:c.1113T=
ENST00000642999.1:c.1081T=	ENSP00000496589.1:p.Leu361=
ENST00000643327.1:c.481-215T=
ENST00000643334.1:c.919T=
ENST00000644408.1:c.1215T=
ENST00000644954.1:c.985T=	ENSP00000494312.1:p.Leu329=
ENST00000645159.1:n.2076T=
ENST00000645671.1:c.789T=
ENST00000645730.1:c.593-215T=
ENST00000646082.1:c.985T=
ENST00000646571.1:c.1243T=	ENSP00000495015.1:p.Leu415=
ENST00000647007.1:n.1031T=
ENST00000647133.1:c.839T=
ENST00000315285.7:c.1339T=	ENSP00000320885.3:p.Leu447=
ENST00000345662.5:c.1243T=	ENSP00000340817.1:p.Leu415=
ENST00000615843.4:c.1339T=	ENSP00000480893.1:p.Leu447=
ENST00000621856.1:c.1081T=	ENSP00000482496.1:p.Leu361=
NM_014946.3:c.1339T= , LRG_714t1:c.1339T=	NP_055761.2:p.Leu447=
NM_199436.1:c.1243T=	NP_955468.1:p.Leu415=
XM_005264516.3:c.1336T=	XP_005264573.1:p.Leu446=
XM_011533067.1:c.1339T=	XP_011531369.1:p.Leu447=
NM_001363823.1:c.1336T=	NP_001350752.1:p.Leu446=
NM_001363875.1:c.1240T=	NP_001350804.1:p.Leu414=
XM_005264516.5:c.1336T=	XP_005264573.1:p.Leu446=
XM_011533067.2:c.1339T=	XP_011531369.1:p.Leu447=
XM_017004778.2:c.1243T=	XP_016860267.1:p.Leu415=
NM_001363823.2:c.1336T=	NP_001350752.1:p.Leu446=
NM_001363875.2:c.1240T=	NP_001350804.1:p.Leu414=
NM_001377959.1:c.1243T=	NP_001364888.1:p.Leu415=
NM_014946.4:c.1339T= MANE Select	NP_055761.2:p.Leu447=
NM_199436.2:c.1243T=	NP_955468.1:p.Leu415=