Canonical Allele Identifier: CA346502448

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32362211A>G (hg19) ; chr2:g.32137142A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137142A>G , CM000664.2:g.32137142A>G	GRCh38
NC_000002.11:g.32362211A>G , CM000664.1:g.32362211A>G	GRCh37
NC_000002.10:g.32215715A>G	NCBI36
NG_008730.1:g.78532A>G , LRG_714:g.78532A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1107A>G	ENSP00000515816.1:n.*1107A>G
ENST00000315285.9:c.1447A>G MANE Select	ENSP00000320885.3:p.Met483Val
ENST00000621856.2:c.1444A>G	ENSP00000482496.2:p.Met482Val
ENST00000642281.1:c.1184A>G
ENST00000642455.1:c.1348A>G	ENSP00000493827.1:p.Met450Val
ENST00000642751.1:c.1221A>G
ENST00000642999.1:c.1189A>G	ENSP00000496589.1:p.Met397Val
ENST00000643327.1:c.514A>G
ENST00000643334.1:c.1027A>G
ENST00000644408.1:c.1323A>G
ENST00000644954.1:c.1093A>G	ENSP00000494312.1:p.Met365Val
ENST00000645159.1:n.2184A>G
ENST00000645671.1:c.897A>G
ENST00000645730.1:c.626A>G
ENST00000646082.1:c.1093A>G
ENST00000646571.1:c.1351A>G	ENSP00000495015.1:p.Met451Val
ENST00000647007.1:n.1139A>G
ENST00000647133.1:c.947A>G
ENST00000315285.7:c.1447A>G	ENSP00000320885.3:p.Met483Val
ENST00000345662.5:c.1351A>G	ENSP00000340817.1:p.Met451Val
ENST00000615843.4:c.1447A>G	ENSP00000480893.1:p.Met483Val
ENST00000621856.1:c.1189A>G	ENSP00000482496.1:p.Met397Val
NM_014946.3:c.1447A>G , LRG_714t1:c.1447A>G	NP_055761.2:p.Met483Val
NM_199436.1:c.1351A>G	NP_955468.1:p.Met451Val
XM_005264516.3:c.1444A>G	XP_005264573.1:p.Met482Val
XM_011533067.1:c.1447A>G	XP_011531369.1:p.Met483Val
NM_001363823.1:c.1444A>G	NP_001350752.1:p.Met482Val
NM_001363875.1:c.1348A>G	NP_001350804.1:p.Met450Val
XM_005264516.5:c.1444A>G	XP_005264573.1:p.Met482Val
XM_011533067.2:c.1447A>G	XP_011531369.1:p.Met483Val
XM_017004778.2:c.1351A>G	XP_016860267.1:p.Met451Val
NM_001363823.2:c.1444A>G	NP_001350752.1:p.Met482Val
NM_001363875.2:c.1348A>G	NP_001350804.1:p.Met450Val
NM_001377959.1:c.1351A>G	NP_001364888.1:p.Met451Val
NM_014946.4:c.1447A>G MANE Select	NP_055761.2:p.Met483Val
NM_199436.2:c.1351A>G	NP_955468.1:p.Met451Val