Canonical Allele Identifier: CA346501428

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32353508C>G (hg19) ; chr2:g.32128439C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128439C>G , CM000664.2:g.32128439C>G	GRCh38
NC_000002.11:g.32353508C>G , CM000664.1:g.32353508C>G	GRCh37
NC_000002.10:g.32207012C>G	NCBI36
NG_008730.1:g.69829C>G , LRG_714:g.69829C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*865C>G	ENSP00000515816.1:n.*865C>G
ENST00000315285.9:c.1205C>G MANE Select	ENSP00000320885.3:p.Thr402Ser
ENST00000621856.2:c.1202C>G	ENSP00000482496.2:p.Thr401Ser
ENST00000642281.1:c.983-8124C>G
ENST00000642455.1:c.1106C>G	ENSP00000493827.1:p.Thr369Ser
ENST00000642751.1:c.979C>G
ENST00000642999.1:c.947C>G	ENSP00000496589.1:p.Thr316Ser
ENST00000643327.1:c.364C>G
ENST00000643334.1:c.785C>G
ENST00000644408.1:c.1081C>G
ENST00000644954.1:c.851C>G	ENSP00000494312.1:p.Thr284Ser
ENST00000645159.1:n.1942C>G
ENST00000645550.1:n.418C>G
ENST00000645671.1:c.655C>G
ENST00000645730.1:c.552C>G
ENST00000646082.1:c.851C>G
ENST00000646571.1:c.1109C>G	ENSP00000495015.1:p.Thr370Ser
ENST00000647007.1:n.897C>G
ENST00000647133.1:c.705C>G
ENST00000315285.7:c.1205C>G	ENSP00000320885.3:p.Thr402Ser
ENST00000345662.5:c.1109C>G	ENSP00000340817.1:p.Thr370Ser
ENST00000615843.4:c.1205C>G	ENSP00000480893.1:p.Thr402Ser
ENST00000621856.1:c.947C>G	ENSP00000482496.1:p.Thr316Ser
NM_014946.3:c.1205C>G , LRG_714t1:c.1205C>G	NP_055761.2:p.Thr402Ser
NM_199436.1:c.1109C>G	NP_955468.1:p.Thr370Ser
XM_005264516.3:c.1202C>G	XP_005264573.1:p.Thr401Ser
XM_011533067.1:c.1205C>G	XP_011531369.1:p.Thr402Ser
NM_001363823.1:c.1202C>G	NP_001350752.1:p.Thr401Ser
NM_001363875.1:c.1106C>G	NP_001350804.1:p.Thr369Ser
XM_005264516.5:c.1202C>G	XP_005264573.1:p.Thr401Ser
XM_011533067.2:c.1205C>G	XP_011531369.1:p.Thr402Ser
XM_017004778.2:c.1109C>G	XP_016860267.1:p.Thr370Ser
NM_001363823.2:c.1202C>G	NP_001350752.1:p.Thr401Ser
NM_001363875.2:c.1106C>G	NP_001350804.1:p.Thr369Ser
NM_001377959.1:c.1109C>G	NP_001364888.1:p.Thr370Ser
NM_014946.4:c.1205C>G MANE Select	NP_055761.2:p.Thr402Ser
NM_199436.2:c.1109C>G	NP_955468.1:p.Thr370Ser