Canonical Allele Identifier: CA2586964655

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126964dup , CM000664.2:g.32126964dup	GRCh38
NC_000002.11:g.32352033dup , CM000664.1:g.32352033dup	GRCh37
NC_000002.10:g.32205537dup	NCBI36
NG_008730.1:g.68354dup , LRG_714:g.68354dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*775dup	ENSP00000515816.1:n.*775dup
ENST00000315285.9:c.1115dup MANE Select	ENSP00000320885.3:p.Ala373SerfsTer21
ENST00000621856.2:c.1112dup	ENSP00000482496.2:p.Ala372SerfsTer21
ENST00000642281.1:c.983-9599dup
ENST00000642455.1:c.1016dup	ENSP00000493827.1:p.Ala340SerfsTer21
ENST00000642751.1:c.889dup
ENST00000642999.1:c.857dup	ENSP00000496589.1:p.Ala287SerfsTer21
ENST00000643327.1:c.274dup
ENST00000643334.1:c.695dup
ENST00000644408.1:c.991dup
ENST00000644954.1:c.761dup	ENSP00000494312.1:p.Ala255SerfsTer21
ENST00000645159.1:n.467dup
ENST00000645550.1:n.328dup
ENST00000645671.1:c.565dup
ENST00000645730.1:c.462dup
ENST00000646082.1:c.761dup
ENST00000646571.1:c.1019dup	ENSP00000495015.1:p.Ala341SerfsTer21
ENST00000647007.1:n.807dup
ENST00000647133.1:c.674-1444dup
ENST00000315285.7:c.1115dup	ENSP00000320885.3:p.Ala373SerfsTer21
ENST00000345662.5:c.1019dup	ENSP00000340817.1:p.Ala341SerfsTer21
ENST00000615843.4:c.1115dup	ENSP00000480893.1:p.Ala373SerfsTer21
ENST00000621856.1:c.857dup	ENSP00000482496.1:p.Ala287SerfsTer21
NM_014946.3:c.1115dup , LRG_714t1:c.1115dup	NP_055761.2:p.Ala373SerfsTer21
NM_199436.1:c.1019dup	NP_955468.1:p.Ala341SerfsTer21
XM_005264516.3:c.1112dup	XP_005264573.1:p.Ala372SerfsTer21
XM_011533067.1:c.1115dup	XP_011531369.1:p.Ala373SerfsTer21
NM_001363823.1:c.1112dup	NP_001350752.1:p.Ala372SerfsTer21
NM_001363875.1:c.1016dup	NP_001350804.1:p.Ala340SerfsTer21
XM_005264516.5:c.1112dup	XP_005264573.1:p.Ala372SerfsTer21
XM_011533067.2:c.1115dup	XP_011531369.1:p.Ala373SerfsTer21
XM_017004778.2:c.1019dup	XP_016860267.1:p.Ala341SerfsTer21
NM_001363823.2:c.1112dup	NP_001350752.1:p.Ala372SerfsTer21
NM_001363875.2:c.1016dup	NP_001350804.1:p.Ala340SerfsTer21
NM_001377959.1:c.1019dup	NP_001364888.1:p.Ala341SerfsTer21
NM_014946.4:c.1115dup MANE Select	NP_055761.2:p.Ala373SerfsTer21
NM_199436.2:c.1019dup	NP_955468.1:p.Ala341SerfsTer21