Canonical Allele Identifier: CA346502309

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1344051
• ClinVar RCV Id: RCV001848154
• dbSNP Id: rs2148754049
• MyVariant Identifiers: chr2:g.32362012C>A (hg19) ; chr2:g.32136943C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136943C>A , CM000664.2:g.32136943C>A	GRCh38
NC_000002.11:g.32362012C>A , CM000664.1:g.32362012C>A	GRCh37
NC_000002.10:g.32215516C>A	NCBI36
NG_008730.1:g.78333C>A , LRG_714:g.78333C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1048C>A	ENSP00000515816.1:n.*1048C>A
ENST00000315285.9:c.1388C>A MANE Select	ENSP00000320885.3:p.Thr463Asn
ENST00000621856.2:c.1385C>A	ENSP00000482496.2:p.Thr462Asn
ENST00000642281.1:c.1125C>A
ENST00000642455.1:c.1289C>A	ENSP00000493827.1:p.Thr430Asn
ENST00000642751.1:c.1162C>A
ENST00000642999.1:c.1130C>A	ENSP00000496589.1:p.Thr377Asn
ENST00000643327.1:c.481-166C>A
ENST00000643334.1:c.968C>A
ENST00000644408.1:c.1264C>A
ENST00000644954.1:c.1034C>A	ENSP00000494312.1:p.Thr345Asn
ENST00000645159.1:n.2125C>A
ENST00000645671.1:c.838C>A
ENST00000645730.1:c.593-166C>A
ENST00000646082.1:c.1034C>A
ENST00000646571.1:c.1292C>A	ENSP00000495015.1:p.Thr431Asn
ENST00000647007.1:n.1080C>A
ENST00000647133.1:c.888C>A
ENST00000315285.7:c.1388C>A	ENSP00000320885.3:p.Thr463Asn
ENST00000345662.5:c.1292C>A	ENSP00000340817.1:p.Thr431Asn
ENST00000615843.4:c.1388C>A	ENSP00000480893.1:p.Thr463Asn
ENST00000621856.1:c.1130C>A	ENSP00000482496.1:p.Thr377Asn
NM_014946.3:c.1388C>A , LRG_714t1:c.1388C>A	NP_055761.2:p.Thr463Asn
NM_199436.1:c.1292C>A	NP_955468.1:p.Thr431Asn
XM_005264516.3:c.1385C>A	XP_005264573.1:p.Thr462Asn
XM_011533067.1:c.1388C>A	XP_011531369.1:p.Thr463Asn
NM_001363823.1:c.1385C>A	NP_001350752.1:p.Thr462Asn
NM_001363875.1:c.1289C>A	NP_001350804.1:p.Thr430Asn
XM_005264516.5:c.1385C>A	XP_005264573.1:p.Thr462Asn
XM_011533067.2:c.1388C>A	XP_011531369.1:p.Thr463Asn
XM_017004778.2:c.1292C>A	XP_016860267.1:p.Thr431Asn
NM_001363823.2:c.1385C>A	NP_001350752.1:p.Thr462Asn
NM_001363875.2:c.1289C>A	NP_001350804.1:p.Thr430Asn
NM_001377959.1:c.1292C>A	NP_001364888.1:p.Thr431Asn
NM_014946.4:c.1388C>A MANE Select	NP_055761.2:p.Thr463Asn
NM_199436.2:c.1292C>A	NP_955468.1:p.Thr431Asn