Canonical Allele Identifier: CA346501442

Gene: SPAST

Linked Data

• ClinVar Variation Id: 966270
• ClinVar RCV Id: RCV001240909
• dbSNP Id: rs1679265515
• MyVariant Identifiers: chr2:g.32353514T>C (hg19) ; chr2:g.32128445T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128445T>C , CM000664.2:g.32128445T>C	GRCh38
NC_000002.11:g.32353514T>C , CM000664.1:g.32353514T>C	GRCh37
NC_000002.10:g.32207018T>C	NCBI36
NG_008730.1:g.69835T>C , LRG_714:g.69835T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*871T>C	ENSP00000515816.1:n.*871T>C
ENST00000315285.9:c.1211T>C MANE Select	ENSP00000320885.3:p.Phe404Ser
ENST00000621856.2:c.1208T>C	ENSP00000482496.2:p.Phe403Ser
ENST00000642281.1:c.983-8118T>C
ENST00000642455.1:c.1112T>C	ENSP00000493827.1:p.Phe371Ser
ENST00000642751.1:c.985T>C
ENST00000642999.1:c.953T>C	ENSP00000496589.1:p.Phe318Ser
ENST00000643327.1:c.370T>C
ENST00000643334.1:c.791T>C
ENST00000644408.1:c.1087T>C
ENST00000644954.1:c.857T>C	ENSP00000494312.1:p.Phe286Ser
ENST00000645159.1:n.1948T>C
ENST00000645550.1:n.424T>C
ENST00000645671.1:c.661T>C
ENST00000645730.1:c.558T>C
ENST00000646082.1:c.857T>C
ENST00000646571.1:c.1115T>C	ENSP00000495015.1:p.Phe372Ser
ENST00000647007.1:n.903T>C
ENST00000647133.1:c.711T>C
ENST00000315285.7:c.1211T>C	ENSP00000320885.3:p.Phe404Ser
ENST00000345662.5:c.1115T>C	ENSP00000340817.1:p.Phe372Ser
ENST00000615843.4:c.1211T>C	ENSP00000480893.1:p.Phe404Ser
ENST00000621856.1:c.953T>C	ENSP00000482496.1:p.Phe318Ser
NM_014946.3:c.1211T>C , LRG_714t1:c.1211T>C	NP_055761.2:p.Phe404Ser
NM_199436.1:c.1115T>C	NP_955468.1:p.Phe372Ser
XM_005264516.3:c.1208T>C	XP_005264573.1:p.Phe403Ser
XM_011533067.1:c.1211T>C	XP_011531369.1:p.Phe404Ser
NM_001363823.1:c.1208T>C	NP_001350752.1:p.Phe403Ser
NM_001363875.1:c.1112T>C	NP_001350804.1:p.Phe371Ser
XM_005264516.5:c.1208T>C	XP_005264573.1:p.Phe403Ser
XM_011533067.2:c.1211T>C	XP_011531369.1:p.Phe404Ser
XM_017004778.2:c.1115T>C	XP_016860267.1:p.Phe372Ser
NM_001363823.2:c.1208T>C	NP_001350752.1:p.Phe403Ser
NM_001363875.2:c.1112T>C	NP_001350804.1:p.Phe371Ser
NM_001377959.1:c.1115T>C	NP_001364888.1:p.Phe372Ser
NM_014946.4:c.1211T>C MANE Select	NP_055761.2:p.Phe404Ser
NM_199436.2:c.1115T>C	NP_955468.1:p.Phe372Ser