Canonical Allele Identifier: CA1242502047

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137137T= , CM000664.2:g.32137137T=	GRCh38
NC_000002.11:g.32362206T= , CM000664.1:g.32362206T=	GRCh37
NC_000002.10:g.32215710T=	NCBI36
NG_008730.1:g.78527T= , LRG_714:g.78527T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1102T=	ENSP00000515816.1:n.*1102T=
ENST00000315285.9:c.1442T= MANE Select	ENSP00000320885.3:p.Leu481=
ENST00000621856.2:c.1439T=	ENSP00000482496.2:p.Leu480=
ENST00000642281.1:c.1179T=
ENST00000642455.1:c.1343T=	ENSP00000493827.1:p.Leu448=
ENST00000642751.1:c.1216T=
ENST00000642999.1:c.1184T=	ENSP00000496589.1:p.Leu395=
ENST00000643327.1:c.509T=
ENST00000643334.1:c.1022T=
ENST00000644408.1:c.1318T=
ENST00000644954.1:c.1088T=	ENSP00000494312.1:p.Leu363=
ENST00000645159.1:n.2179T=
ENST00000645671.1:c.892T=
ENST00000645730.1:c.621T=
ENST00000646082.1:c.1088T=
ENST00000646571.1:c.1346T=	ENSP00000495015.1:p.Leu449=
ENST00000647007.1:n.1134T=
ENST00000647133.1:c.942T=
ENST00000315285.7:c.1442T=	ENSP00000320885.3:p.Leu481=
ENST00000345662.5:c.1346T=	ENSP00000340817.1:p.Leu449=
ENST00000615843.4:c.1442T=	ENSP00000480893.1:p.Leu481=
ENST00000621856.1:c.1184T=	ENSP00000482496.1:p.Leu395=
NM_014946.3:c.1442T= , LRG_714t1:c.1442T=	NP_055761.2:p.Leu481=
NM_199436.1:c.1346T=	NP_955468.1:p.Leu449=
XM_005264516.3:c.1439T=	XP_005264573.1:p.Leu480=
XM_011533067.1:c.1442T=	XP_011531369.1:p.Leu481=
NM_001363823.1:c.1439T=	NP_001350752.1:p.Leu480=
NM_001363875.1:c.1343T=	NP_001350804.1:p.Leu448=
XM_005264516.5:c.1439T=	XP_005264573.1:p.Leu480=
XM_011533067.2:c.1442T=	XP_011531369.1:p.Leu481=
XM_017004778.2:c.1346T=	XP_016860267.1:p.Leu449=
NM_001363823.2:c.1439T=	NP_001350752.1:p.Leu480=
NM_001363875.2:c.1343T=	NP_001350804.1:p.Leu448=
NM_001377959.1:c.1346T=	NP_001364888.1:p.Leu449=
NM_014946.4:c.1442T= MANE Select	NP_055761.2:p.Leu481=
NM_199436.2:c.1346T=	NP_955468.1:p.Leu449=