Canonical Allele Identifier: CA346501408
Community Standard Title: NM_014946.4(SPAST):c.1196C>A (p.Ser399Ter)
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32128430C>A , CM000664.2:g.32128430C>A GRCh38
NC_000002.11:g.32353499C>A , CM000664.1:g.32353499C>A GRCh37
NC_000002.10:g.32207003C>A NCBI36
NG_008730.1:g.69820C>A , LRG_714:g.69820C>A

Transcript Alleles

HGVS Amino-acid Change
NM_014946.4:c.1196C>A MANE Select NP_055761.2:p.Ser399Ter
ENST00000315285.9:c.1196C>A MANE Select ENSP00000320885.3:p.Ser399Ter
NM_001363823.1:c.1193C>A NP_001350752.1:p.Ser398Ter
NM_001363823.2:c.1193C>A NP_001350752.1:p.Ser398Ter
NM_001363875.1:c.1097C>A NP_001350804.1:p.Ser366Ter
NM_001363875.2:c.1097C>A NP_001350804.1:p.Ser366Ter
NM_001377959.1:c.1100C>A NP_001364888.1:p.Ser367Ter
NM_014946.3:c.1196C>A , LRG_714t1:c.1196C>A NP_055761.2:p.Ser399Ter
NM_199436.1:c.1100C>A NP_955468.1:p.Ser367Ter
NM_199436.2:c.1100C>A NP_955468.1:p.Ser367Ter
ENST00000315285.7:c.1196C>A ENSP00000320885.3:p.Ser399Ter
ENST00000345662.5:c.1100C>A ENSP00000340817.1:p.Ser367Ter
ENST00000615843.4:c.1196C>A ENSP00000480893.1:p.Ser399Ter
ENST00000621856.1:c.938C>A ENSP00000482496.1:p.Ser313Ter
ENST00000621856.2:c.1193C>A ENSP00000482496.2:p.Ser398Ter
ENST00000642281.1:c.983-8133C>A
ENST00000642455.1:c.1097C>A ENSP00000493827.1:p.Ser366Ter
ENST00000642751.1:c.970C>A
ENST00000642999.1:c.938C>A ENSP00000496589.1:p.Ser313Ter
ENST00000643327.1:c.355C>A
ENST00000643334.1:c.776C>A
ENST00000644408.1:c.1072C>A
ENST00000644954.1:c.842C>A ENSP00000494312.1:p.Ser281Ter
ENST00000645159.1:n.1933C>A
ENST00000645550.1:n.409C>A
ENST00000645671.1:c.646C>A
ENST00000645730.1:c.543C>A
ENST00000646082.1:c.842C>A
ENST00000646571.1:c.1100C>A ENSP00000495015.1:p.Ser367Ter
ENST00000647007.1:n.888C>A
ENST00000647133.1:c.696C>A
ENST00000704289.1:c.*856C>A ENSP00000515816.1:n.*856C>A
XM_005264516.3:c.1193C>A XP_005264573.1:p.Ser398Ter
XM_005264516.5:c.1193C>A XP_005264573.1:p.Ser398Ter
XM_011533067.1:c.1196C>A XP_011531369.1:p.Ser399Ter
XM_011533067.2:c.1196C>A XP_011531369.1:p.Ser399Ter
XM_017004778.2:c.1100C>A XP_016860267.1:p.Ser367Ter