Canonical Allele Identifier: CA346601407

Gene: SPAST

Linked Data

• dbSNP Id: rs1243604890
• gnomAD v2: 2-32289030-T-C
• gnomAD v4: 2-32063961-T-C
• MyVariant Identifiers: chr2:g.32289030T>C (hg19) ; chr2:g.32063961T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32063961T>C , CM000664.2:g.32063961T>C	GRCh38
NC_000002.11:g.32289030T>C , CM000664.1:g.32289030T>C	GRCh37
NC_000002.10:g.32142534T>C	NCBI36
NG_008730.1:g.5351T>C , LRG_714:g.5351T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.130T>C	ENSP00000515816.1:p.Ser44Pro
ENST00000315285.9:c.130T>C MANE Select	ENSP00000320885.3:p.Ser44Pro
ENST00000621856.2:c.130T>C	ENSP00000482496.2:p.Ser44Pro
ENST00000642281.1:c.14T>C
ENST00000642455.1:c.130T>C	ENSP00000493827.1:p.Ser44Pro
ENST00000644408.1:c.6T>C
ENST00000646571.1:c.130T>C	ENSP00000495015.1:p.Ser44Pro
ENST00000315285.7:c.130T>C	ENSP00000320885.3:p.Ser44Pro
ENST00000345662.5:c.130T>C	ENSP00000340817.1:p.Ser44Pro
ENST00000615843.4:c.130T>C	ENSP00000480893.1:p.Ser44Pro
NM_014946.3:c.130T>C , LRG_714t1:c.130T>C	NP_055761.2:p.Ser44Pro
NM_199436.1:c.130T>C	NP_955468.1:p.Ser44Pro
XM_005264516.3:c.130T>C	XP_005264573.1:p.Ser44Pro
XM_011533067.1:c.130T>C	XP_011531369.1:p.Ser44Pro
NM_001363823.1:c.130T>C	NP_001350752.1:p.Ser44Pro
NM_001363875.1:c.130T>C	NP_001350804.1:p.Ser44Pro
XM_005264516.5:c.130T>C	XP_005264573.1:p.Ser44Pro
XM_011533067.2:c.130T>C	XP_011531369.1:p.Ser44Pro
XM_017004778.2:c.130T>C	XP_016860267.1:p.Ser44Pro
NM_001363823.2:c.130T>C	NP_001350752.1:p.Ser44Pro
NM_001363875.2:c.130T>C	NP_001350804.1:p.Ser44Pro
NM_001377959.1:c.130T>C	NP_001364888.1:p.Ser44Pro
NM_014946.4:c.130T>C MANE Select	NP_055761.2:p.Ser44Pro
NM_199436.2:c.130T>C	NP_955468.1:p.Ser44Pro