Canonical Allele Identifier: CA346602323
Gene: SPAST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32064166A>T , CM000664.2:g.32064166A>T GRCh38
NC_000002.11:g.32289235A>T , CM000664.1:g.32289235A>T GRCh37
NC_000002.10:g.32142739A>T NCBI36
NG_008730.1:g.5556A>T , LRG_714:g.5556A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.335A>T ENSP00000515816.1:p.Glu112Val
ENST00000315285.9:c.335A>T MANE Select ENSP00000320885.3:p.Glu112Val
ENST00000621856.2:c.335A>T ENSP00000482496.2:p.Glu112Val
ENST00000642281.1:c.219A>T
ENST00000642455.1:c.335A>T ENSP00000493827.1:p.Glu112Val
ENST00000642751.1:c.205A>T
ENST00000642999.1:c.77A>T ENSP00000496589.1:p.Glu26Val
ENST00000644408.1:c.211A>T
ENST00000644954.1:c.77A>T ENSP00000494312.1:p.Glu26Val
ENST00000645400.1:c.176A>T ENSP00000496306.1:p.Glu59Val
ENST00000646082.1:c.169A>T
ENST00000646571.1:c.335A>T ENSP00000495015.1:p.Glu112Val
ENST00000315285.7:c.335A>T ENSP00000320885.3:p.Glu112Val
ENST00000345662.5:c.335A>T ENSP00000340817.1:p.Glu112Val
ENST00000615843.4:c.335A>T ENSP00000480893.1:p.Glu112Val
ENST00000621856.1:c.77A>T ENSP00000482496.1:p.Glu26Val
NM_014946.3:c.335A>T , LRG_714t1:c.335A>T NP_055761.2:p.Glu112Val
NM_199436.1:c.335A>T NP_955468.1:p.Glu112Val
XM_005264516.3:c.335A>T XP_005264573.1:p.Glu112Val
XM_011533067.1:c.335A>T XP_011531369.1:p.Glu112Val
NM_001363823.1:c.335A>T NP_001350752.1:p.Glu112Val
NM_001363875.1:c.335A>T NP_001350804.1:p.Glu112Val
XM_005264516.5:c.335A>T XP_005264573.1:p.Glu112Val
XM_011533067.2:c.335A>T XP_011531369.1:p.Glu112Val
XM_017004778.2:c.335A>T XP_016860267.1:p.Glu112Val
NM_001363823.2:c.335A>T NP_001350752.1:p.Glu112Val
NM_001363875.2:c.335A>T NP_001350804.1:p.Glu112Val
NM_001377959.1:c.335A>T NP_001364888.1:p.Glu112Val
NM_014946.4:c.335A>T MANE Select NP_055761.2:p.Glu112Val
NM_199436.2:c.335A>T NP_955468.1:p.Glu112Val