Canonical Allele Identifier: CA1600492
Gene: SPAST HGNC NCBI

Linked Data

dbSNP Id: rs374457601
gnomAD v2: 2-32289021-C-A
gnomAD v4: 2-32063952-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32063952C>A , CM000664.2:g.32063952C>A GRCh38
NC_000002.11:g.32289021C>A , CM000664.1:g.32289021C>A GRCh37
NC_000002.10:g.32142525C>A NCBI36
NG_008730.1:g.5342C>A , LRG_714:g.5342C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.121C>A ENSP00000515816.1:p.Pro41Thr
ENST00000315285.9:c.121C>A MANE Select ENSP00000320885.3:p.Pro41Thr
ENST00000621856.2:c.121C>A ENSP00000482496.2:p.Pro41Thr
ENST00000642281.1:c.5C>A
ENST00000642455.1:c.121C>A ENSP00000493827.1:p.Pro41Thr
ENST00000646571.1:c.121C>A ENSP00000495015.1:p.Pro41Thr
ENST00000315285.7:c.121C>A ENSP00000320885.3:p.Pro41Thr
ENST00000345662.5:c.121C>A ENSP00000340817.1:p.Pro41Thr
ENST00000615843.4:c.121C>A ENSP00000480893.1:p.Pro41Thr
NM_014946.3:c.121C>A , LRG_714t1:c.121C>A NP_055761.2:p.Pro41Thr
NM_199436.1:c.121C>A NP_955468.1:p.Pro41Thr
XM_005264516.3:c.121C>A XP_005264573.1:p.Pro41Thr
XM_011533067.1:c.121C>A XP_011531369.1:p.Pro41Thr
NM_001363823.1:c.121C>A NP_001350752.1:p.Pro41Thr
NM_001363875.1:c.121C>A NP_001350804.1:p.Pro41Thr
XM_005264516.5:c.121C>A XP_005264573.1:p.Pro41Thr
XM_011533067.2:c.121C>A XP_011531369.1:p.Pro41Thr
XM_017004778.2:c.121C>A XP_016860267.1:p.Pro41Thr
NM_001363823.2:c.121C>A NP_001350752.1:p.Pro41Thr
NM_001363875.2:c.121C>A NP_001350804.1:p.Pro41Thr
NM_001377959.1:c.121C>A NP_001364888.1:p.Pro41Thr
NM_014946.4:c.121C>A MANE Select NP_055761.2:p.Pro41Thr
NM_199436.2:c.121C>A NP_955468.1:p.Pro41Thr