Canonical Allele Identifier: CA346501205
Gene: SPAST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32126954A>T , CM000664.2:g.32126954A>T GRCh38
NC_000002.11:g.32352023A>T , CM000664.1:g.32352023A>T GRCh37
NC_000002.10:g.32205527A>T NCBI36
NG_008730.1:g.68344A>T , LRG_714:g.68344A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*765A>T ENSP00000515816.1:n.*765A>T
ENST00000315285.9:c.1105A>T MANE Select ENSP00000320885.3:p.Thr369Ser
ENST00000621856.2:c.1102A>T ENSP00000482496.2:p.Thr368Ser
ENST00000642281.1:c.983-9609A>T
ENST00000642455.1:c.1006A>T ENSP00000493827.1:p.Thr336Ser
ENST00000642751.1:c.879A>T
ENST00000642999.1:c.847A>T ENSP00000496589.1:p.Thr283Ser
ENST00000643327.1:c.264A>T
ENST00000643334.1:c.685A>T
ENST00000644408.1:c.981A>T
ENST00000644954.1:c.751A>T ENSP00000494312.1:p.Thr251Ser
ENST00000645159.1:n.457A>T
ENST00000645550.1:n.318A>T
ENST00000645671.1:c.555A>T
ENST00000645730.1:c.452A>T
ENST00000646082.1:c.751A>T
ENST00000646571.1:c.1009A>T ENSP00000495015.1:p.Thr337Ser
ENST00000647007.1:n.797A>T
ENST00000647133.1:c.674-1454A>T
ENST00000315285.7:c.1105A>T ENSP00000320885.3:p.Thr369Ser
ENST00000345662.5:c.1009A>T ENSP00000340817.1:p.Thr337Ser
ENST00000615843.4:c.1105A>T ENSP00000480893.1:p.Thr369Ser
ENST00000621856.1:c.847A>T ENSP00000482496.1:p.Thr283Ser
NM_014946.3:c.1105A>T , LRG_714t1:c.1105A>T NP_055761.2:p.Thr369Ser
NM_199436.1:c.1009A>T NP_955468.1:p.Thr337Ser
XM_005264516.3:c.1102A>T XP_005264573.1:p.Thr368Ser
XM_011533067.1:c.1105A>T XP_011531369.1:p.Thr369Ser
NM_001363823.1:c.1102A>T NP_001350752.1:p.Thr368Ser
NM_001363875.1:c.1006A>T NP_001350804.1:p.Thr336Ser
XM_005264516.5:c.1102A>T XP_005264573.1:p.Thr368Ser
XM_011533067.2:c.1105A>T XP_011531369.1:p.Thr369Ser
XM_017004778.2:c.1009A>T XP_016860267.1:p.Thr337Ser
NM_001363823.2:c.1102A>T NP_001350752.1:p.Thr368Ser
NM_001363875.2:c.1006A>T NP_001350804.1:p.Thr336Ser
NM_001377959.1:c.1009A>T NP_001364888.1:p.Thr337Ser
NM_014946.4:c.1105A>T MANE Select NP_055761.2:p.Thr369Ser
NM_199436.2:c.1009A>T NP_955468.1:p.Thr337Ser