Canonical Allele Identifier: CA346501415
Gene: SPAST HGNC NCBI

Linked Data

dbSNP Id: rs539763871
gnomAD v2: 2-32353502-A-G
gnomAD v4: 2-32128433-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32128433A>G , CM000664.2:g.32128433A>G GRCh38
NC_000002.11:g.32353502A>G , CM000664.1:g.32353502A>G GRCh37
NC_000002.10:g.32207006A>G NCBI36
NG_008730.1:g.69823A>G , LRG_714:g.69823A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*859A>G ENSP00000515816.1:n.*859A>G
ENST00000315285.9:c.1199A>G MANE Select ENSP00000320885.3:p.Asn400Ser
ENST00000621856.2:c.1196A>G ENSP00000482496.2:p.Asn399Ser
ENST00000642281.1:c.983-8130A>G
ENST00000642455.1:c.1100A>G ENSP00000493827.1:p.Asn367Ser
ENST00000642751.1:c.973A>G
ENST00000642999.1:c.941A>G ENSP00000496589.1:p.Asn314Ser
ENST00000643327.1:c.358A>G
ENST00000643334.1:c.779A>G
ENST00000644408.1:c.1075A>G
ENST00000644954.1:c.845A>G ENSP00000494312.1:p.Asn282Ser
ENST00000645159.1:n.1936A>G
ENST00000645550.1:n.412A>G
ENST00000645671.1:c.649A>G
ENST00000645730.1:c.546A>G
ENST00000646082.1:c.845A>G
ENST00000646571.1:c.1103A>G ENSP00000495015.1:p.Asn368Ser
ENST00000647007.1:n.891A>G
ENST00000647133.1:c.699A>G
ENST00000315285.7:c.1199A>G ENSP00000320885.3:p.Asn400Ser
ENST00000345662.5:c.1103A>G ENSP00000340817.1:p.Asn368Ser
ENST00000615843.4:c.1199A>G ENSP00000480893.1:p.Asn400Ser
ENST00000621856.1:c.941A>G ENSP00000482496.1:p.Asn314Ser
NM_014946.3:c.1199A>G , LRG_714t1:c.1199A>G NP_055761.2:p.Asn400Ser
NM_199436.1:c.1103A>G NP_955468.1:p.Asn368Ser
XM_005264516.3:c.1196A>G XP_005264573.1:p.Asn399Ser
XM_011533067.1:c.1199A>G XP_011531369.1:p.Asn400Ser
NM_001363823.1:c.1196A>G NP_001350752.1:p.Asn399Ser
NM_001363875.1:c.1100A>G NP_001350804.1:p.Asn367Ser
XM_005264516.5:c.1196A>G XP_005264573.1:p.Asn399Ser
XM_011533067.2:c.1199A>G XP_011531369.1:p.Asn400Ser
XM_017004778.2:c.1103A>G XP_016860267.1:p.Asn368Ser
NM_001363823.2:c.1196A>G NP_001350752.1:p.Asn399Ser
NM_001363875.2:c.1100A>G NP_001350804.1:p.Asn367Ser
NM_001377959.1:c.1103A>G NP_001364888.1:p.Asn368Ser
NM_014946.4:c.1199A>G MANE Select NP_055761.2:p.Asn400Ser
NM_199436.2:c.1103A>G NP_955468.1:p.Asn368Ser