Canonical Allele Identifier: CA2586964746

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136605dup , CM000664.2:g.32136605dup	GRCh38
NC_000002.11:g.32361674dup , CM000664.1:g.32361674dup	GRCh37
NC_000002.10:g.32215178dup	NCBI36
NG_008730.1:g.77995dup , LRG_714:g.77995dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*948dup	ENSP00000515816.1:n.*948dup
ENST00000315285.9:c.1288dup MANE Select	ENSP00000320885.3:p.Ala430GlyfsTer13
ENST00000621856.2:c.1285dup	ENSP00000482496.2:p.Ala429GlyfsTer13
ENST00000642281.1:c.1025dup
ENST00000642455.1:c.1189dup	ENSP00000493827.1:p.Ala397GlyfsTer13
ENST00000642751.1:c.1062dup
ENST00000642999.1:c.1030dup	ENSP00000496589.1:p.Ala344GlyfsTer13
ENST00000643327.1:c.447dup
ENST00000643334.1:c.868dup
ENST00000644408.1:c.1164dup
ENST00000644954.1:c.934dup	ENSP00000494312.1:p.Ala312GlyfsTer13
ENST00000645159.1:n.2025dup
ENST00000645671.1:c.738dup
ENST00000645730.1:c.593-504dup
ENST00000646082.1:c.934dup
ENST00000646571.1:c.1192dup	ENSP00000495015.1:p.Ala398GlyfsTer13
ENST00000647007.1:n.980dup
ENST00000647133.1:c.788dup
ENST00000315285.7:c.1288dup	ENSP00000320885.3:p.Ala430GlyfsTer13
ENST00000345662.5:c.1192dup	ENSP00000340817.1:p.Ala398GlyfsTer13
ENST00000615843.4:c.1288dup	ENSP00000480893.1:p.Ala430GlyfsTer13
ENST00000621856.1:c.1030dup	ENSP00000482496.1:p.Ala344GlyfsTer13
NM_014946.3:c.1288dup , LRG_714t1:c.1288dup	NP_055761.2:p.Ala430GlyfsTer13
NM_199436.1:c.1192dup	NP_955468.1:p.Ala398GlyfsTer13
XM_005264516.3:c.1285dup	XP_005264573.1:p.Ala429GlyfsTer13
XM_011533067.1:c.1288dup	XP_011531369.1:p.Ala430GlyfsTer13
NM_001363823.1:c.1285dup	NP_001350752.1:p.Ala429GlyfsTer13
NM_001363875.1:c.1189dup	NP_001350804.1:p.Ala397GlyfsTer13
XM_005264516.5:c.1285dup	XP_005264573.1:p.Ala429GlyfsTer13
XM_011533067.2:c.1288dup	XP_011531369.1:p.Ala430GlyfsTer13
XM_017004778.2:c.1192dup	XP_016860267.1:p.Ala398GlyfsTer13
NM_001363823.2:c.1285dup	NP_001350752.1:p.Ala429GlyfsTer13
NM_001363875.2:c.1189dup	NP_001350804.1:p.Ala397GlyfsTer13
NM_001377959.1:c.1192dup	NP_001364888.1:p.Ala398GlyfsTer13
NM_014946.4:c.1288dup MANE Select	NP_055761.2:p.Ala430GlyfsTer13
NM_199436.2:c.1192dup	NP_955468.1:p.Ala398GlyfsTer13