Canonical Allele Identifier: CA346502103

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1709809
• ClinVar RCV Id: RCV002290151
• gnomAD v4: 2-32136620-C-A
• MyVariant Identifiers: chr2:g.32361689C>A (hg19) ; chr2:g.32136620C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136620C>A , CM000664.2:g.32136620C>A	GRCh38
NC_000002.11:g.32361689C>A , CM000664.1:g.32361689C>A	GRCh37
NC_000002.10:g.32215193C>A	NCBI36
NG_008730.1:g.78010C>A , LRG_714:g.78010C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*963C>A	ENSP00000515816.1:n.*963C>A
ENST00000315285.9:c.1303C>A MANE Select	ENSP00000320885.3:p.Pro435Thr
ENST00000621856.2:c.1300C>A	ENSP00000482496.2:p.Pro434Thr
ENST00000642281.1:c.1040C>A
ENST00000642455.1:c.1204C>A	ENSP00000493827.1:p.Pro402Thr
ENST00000642751.1:c.1077C>A
ENST00000642999.1:c.1045C>A	ENSP00000496589.1:p.Pro349Thr
ENST00000643327.1:c.462C>A
ENST00000643334.1:c.883C>A
ENST00000644408.1:c.1179C>A
ENST00000644954.1:c.949C>A	ENSP00000494312.1:p.Pro317Thr
ENST00000645159.1:n.2040C>A
ENST00000645671.1:c.753C>A
ENST00000645730.1:c.593-489C>A
ENST00000646082.1:c.949C>A
ENST00000646571.1:c.1207C>A	ENSP00000495015.1:p.Pro403Thr
ENST00000647007.1:n.995C>A
ENST00000647133.1:c.803C>A
ENST00000315285.7:c.1303C>A	ENSP00000320885.3:p.Pro435Thr
ENST00000345662.5:c.1207C>A	ENSP00000340817.1:p.Pro403Thr
ENST00000615843.4:c.1303C>A	ENSP00000480893.1:p.Pro435Thr
ENST00000621856.1:c.1045C>A	ENSP00000482496.1:p.Pro349Thr
NM_014946.3:c.1303C>A , LRG_714t1:c.1303C>A	NP_055761.2:p.Pro435Thr
NM_199436.1:c.1207C>A	NP_955468.1:p.Pro403Thr
XM_005264516.3:c.1300C>A	XP_005264573.1:p.Pro434Thr
XM_011533067.1:c.1303C>A	XP_011531369.1:p.Pro435Thr
NM_001363823.1:c.1300C>A	NP_001350752.1:p.Pro434Thr
NM_001363875.1:c.1204C>A	NP_001350804.1:p.Pro402Thr
XM_005264516.5:c.1300C>A	XP_005264573.1:p.Pro434Thr
XM_011533067.2:c.1303C>A	XP_011531369.1:p.Pro435Thr
XM_017004778.2:c.1207C>A	XP_016860267.1:p.Pro403Thr
NM_001363823.2:c.1300C>A	NP_001350752.1:p.Pro434Thr
NM_001363875.2:c.1204C>A	NP_001350804.1:p.Pro402Thr
NM_001377959.1:c.1207C>A	NP_001364888.1:p.Pro403Thr
NM_014946.4:c.1303C>A MANE Select	NP_055761.2:p.Pro435Thr
NM_199436.2:c.1207C>A	NP_955468.1:p.Pro403Thr