Canonical Allele Identifier: CA1242502056

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137139G= , CM000664.2:g.32137139G=	GRCh38
NC_000002.11:g.32362208G= , CM000664.1:g.32362208G=	GRCh37
NC_000002.10:g.32215712G=	NCBI36
NG_008730.1:g.78529G= , LRG_714:g.78529G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1104G=	ENSP00000515816.1:n.*1104G=
ENST00000315285.9:c.1444G= MANE Select	ENSP00000320885.3:p.Val482=
ENST00000621856.2:c.1441G=	ENSP00000482496.2:p.Val481=
ENST00000642281.1:c.1181G=
ENST00000642455.1:c.1345G=	ENSP00000493827.1:p.Val449=
ENST00000642751.1:c.1218G=
ENST00000642999.1:c.1186G=	ENSP00000496589.1:p.Val396=
ENST00000643327.1:c.511G=
ENST00000643334.1:c.1024G=
ENST00000644408.1:c.1320G=
ENST00000644954.1:c.1090G=	ENSP00000494312.1:p.Val364=
ENST00000645159.1:n.2181G=
ENST00000645671.1:c.894G=
ENST00000645730.1:c.623G=
ENST00000646082.1:c.1090G=
ENST00000646571.1:c.1348G=	ENSP00000495015.1:p.Val450=
ENST00000647007.1:n.1136G=
ENST00000647133.1:c.944G=
ENST00000315285.7:c.1444G=	ENSP00000320885.3:p.Val482=
ENST00000345662.5:c.1348G=	ENSP00000340817.1:p.Val450=
ENST00000615843.4:c.1444G=	ENSP00000480893.1:p.Val482=
ENST00000621856.1:c.1186G=	ENSP00000482496.1:p.Val396=
NM_014946.3:c.1444G= , LRG_714t1:c.1444G=	NP_055761.2:p.Val482=
NM_199436.1:c.1348G=	NP_955468.1:p.Val450=
XM_005264516.3:c.1441G=	XP_005264573.1:p.Val481=
XM_011533067.1:c.1444G=	XP_011531369.1:p.Val482=
NM_001363823.1:c.1441G=	NP_001350752.1:p.Val481=
NM_001363875.1:c.1345G=	NP_001350804.1:p.Val449=
XM_005264516.5:c.1441G=	XP_005264573.1:p.Val481=
XM_011533067.2:c.1444G=	XP_011531369.1:p.Val482=
XM_017004778.2:c.1348G=	XP_016860267.1:p.Val450=
NM_001363823.2:c.1441G=	NP_001350752.1:p.Val481=
NM_001363875.2:c.1345G=	NP_001350804.1:p.Val449=
NM_001377959.1:c.1348G=	NP_001364888.1:p.Val450=
NM_014946.4:c.1444G= MANE Select	NP_055761.2:p.Val482=
NM_199436.2:c.1348G=	NP_955468.1:p.Val450=