Canonical Allele Identifier: CA346601188

Gene: SPAST

Linked Data

• dbSNP Id: rs1271058224
• gnomAD v2: 2-32288908-C-A
• gnomAD v4: 2-32063839-C-A
• MyVariant Identifiers: chr2:g.32288908C>A (hg19) ; chr2:g.32063839C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32063839C>A , CM000664.2:g.32063839C>A	GRCh38
NC_000002.11:g.32288908C>A , CM000664.1:g.32288908C>A	GRCh37
NC_000002.10:g.32142412C>A	NCBI36
NG_008730.1:g.5229C>A , LRG_714:g.5229C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.8C>A	ENSP00000515816.1:p.Ser3Tyr
ENST00000315285.9:c.8C>A MANE Select	ENSP00000320885.3:p.Ser3Tyr
ENST00000621856.2:c.8C>A	ENSP00000482496.2:p.Ser3Tyr
ENST00000642455.1:c.8C>A	ENSP00000493827.1:p.Ser3Tyr
ENST00000646571.1:c.8C>A	ENSP00000495015.1:p.Ser3Tyr
ENST00000315285.7:c.8C>A	ENSP00000320885.3:p.Ser3Tyr
ENST00000345662.5:c.8C>A	ENSP00000340817.1:p.Ser3Tyr
ENST00000615843.4:c.8C>A	ENSP00000480893.1:p.Ser3Tyr
NM_014946.3:c.8C>A , LRG_714t1:c.8C>A	NP_055761.2:p.Ser3Tyr
NM_199436.1:c.8C>A	NP_955468.1:p.Ser3Tyr
XM_005264516.3:c.8C>A	XP_005264573.1:p.Ser3Tyr
XM_011533067.1:c.8C>A	XP_011531369.1:p.Ser3Tyr
NM_001363823.1:c.8C>A	NP_001350752.1:p.Ser3Tyr
NM_001363875.1:c.8C>A	NP_001350804.1:p.Ser3Tyr
XM_005264516.5:c.8C>A	XP_005264573.1:p.Ser3Tyr
XM_011533067.2:c.8C>A	XP_011531369.1:p.Ser3Tyr
XM_017004778.2:c.8C>A	XP_016860267.1:p.Ser3Tyr
NM_001363823.2:c.8C>A	NP_001350752.1:p.Ser3Tyr
NM_001363875.2:c.8C>A	NP_001350804.1:p.Ser3Tyr
NM_001377959.1:c.8C>A	NP_001364888.1:p.Ser3Tyr
NM_014946.4:c.8C>A MANE Select	NP_055761.2:p.Ser3Tyr
NM_199436.2:c.8C>A	NP_955468.1:p.Ser3Tyr