Canonical Allele Identifier: CA117671

Gene: SPAST

Linked Data

• ClinVar Variation Id: 5672
• ClinVar RCV Id: RCV000006026 ; RCV000584902 ; RCV000845266 ; RCV001847588
• dbSNP Id: rs121908517
• ExAC: 2:32289034 C / A
• gnomAD v2: 2-32289034-C-A
• gnomAD v3: 2-32063965-C-A
• gnomAD v4: 2-32063965-C-A
• MyVariant Identifiers: chr2:g.32289034C>A (hg19) ; chr2:g.32063965C>A (hg38)
• PubMed: PMID:15248095

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32063965C>A , CM000664.2:g.32063965C>A	GRCh38
NC_000002.11:g.32289034C>A , CM000664.1:g.32289034C>A	GRCh37
NC_000002.10:g.32142538C>A	NCBI36
NG_008730.1:g.5355C>A , LRG_714:g.5355C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.134C>A	ENSP00000515816.1:p.Pro45Gln
ENST00000315285.9:c.134C>A MANE Select	ENSP00000320885.3:p.Pro45Gln
ENST00000621856.2:c.134C>A	ENSP00000482496.2:p.Pro45Gln
ENST00000642281.1:c.18C>A
ENST00000642455.1:c.134C>A	ENSP00000493827.1:p.Pro45Gln
ENST00000642751.1:c.4C>A
ENST00000644408.1:c.10C>A
ENST00000646571.1:c.134C>A	ENSP00000495015.1:p.Pro45Gln
ENST00000315285.7:c.134C>A	ENSP00000320885.3:p.Pro45Gln
ENST00000345662.5:c.134C>A	ENSP00000340817.1:p.Pro45Gln
ENST00000615843.4:c.134C>A	ENSP00000480893.1:p.Pro45Gln
NM_014946.3:c.134C>A , LRG_714t1:c.134C>A	NP_055761.2:p.Pro45Gln
NM_199436.1:c.134C>A	NP_955468.1:p.Pro45Gln
XM_005264516.3:c.134C>A	XP_005264573.1:p.Pro45Gln
XM_011533067.1:c.134C>A	XP_011531369.1:p.Pro45Gln
NM_001363823.1:c.134C>A	NP_001350752.1:p.Pro45Gln
NM_001363875.1:c.134C>A	NP_001350804.1:p.Pro45Gln
XM_005264516.5:c.134C>A	XP_005264573.1:p.Pro45Gln
XM_011533067.2:c.134C>A	XP_011531369.1:p.Pro45Gln
XM_017004778.2:c.134C>A	XP_016860267.1:p.Pro45Gln
NM_001363823.2:c.134C>A	NP_001350752.1:p.Pro45Gln
NM_001363875.2:c.134C>A	NP_001350804.1:p.Pro45Gln
NM_001377959.1:c.134C>A	NP_001364888.1:p.Pro45Gln
NM_014946.4:c.134C>A MANE Select	NP_055761.2:p.Pro45Gln
NM_199436.2:c.134C>A	NP_955468.1:p.Pro45Gln