Canonical Allele Identifier: CA346501484

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32353533T>A (hg19) ; chr2:g.32128464T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128464T>A , CM000664.2:g.32128464T>A	GRCh38
NC_000002.11:g.32353533T>A , CM000664.1:g.32353533T>A	GRCh37
NC_000002.10:g.32207037T>A	NCBI36
NG_008730.1:g.69854T>A , LRG_714:g.69854T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*890T>A	ENSP00000515816.1:n.*890T>A
ENST00000315285.9:c.1230T>A MANE Select	ENSP00000320885.3:p.Ser410Arg
ENST00000621856.2:c.1227T>A	ENSP00000482496.2:p.Ser409Arg
ENST00000642281.1:c.983-8099T>A
ENST00000642455.1:c.1131T>A	ENSP00000493827.1:p.Ser377Arg
ENST00000642751.1:c.1004T>A
ENST00000642999.1:c.972T>A	ENSP00000496589.1:p.Ser324Arg
ENST00000643327.1:c.389T>A
ENST00000643334.1:c.810T>A
ENST00000644408.1:c.1106T>A
ENST00000644954.1:c.876T>A	ENSP00000494312.1:p.Ser292Arg
ENST00000645159.1:n.1967T>A
ENST00000645550.1:n.443T>A
ENST00000645671.1:c.680T>A
ENST00000645730.1:c.577T>A
ENST00000646082.1:c.876T>A
ENST00000646571.1:c.1134T>A	ENSP00000495015.1:p.Ser378Arg
ENST00000647007.1:n.922T>A
ENST00000647133.1:c.730T>A
ENST00000315285.7:c.1230T>A	ENSP00000320885.3:p.Ser410Arg
ENST00000345662.5:c.1134T>A	ENSP00000340817.1:p.Ser378Arg
ENST00000615843.4:c.1230T>A	ENSP00000480893.1:p.Ser410Arg
ENST00000621856.1:c.972T>A	ENSP00000482496.1:p.Ser324Arg
NM_014946.3:c.1230T>A , LRG_714t1:c.1230T>A	NP_055761.2:p.Ser410Arg
NM_199436.1:c.1134T>A	NP_955468.1:p.Ser378Arg
XM_005264516.3:c.1227T>A	XP_005264573.1:p.Ser409Arg
XM_011533067.1:c.1230T>A	XP_011531369.1:p.Ser410Arg
NM_001363823.1:c.1227T>A	NP_001350752.1:p.Ser409Arg
NM_001363875.1:c.1131T>A	NP_001350804.1:p.Ser377Arg
XM_005264516.5:c.1227T>A	XP_005264573.1:p.Ser409Arg
XM_011533067.2:c.1230T>A	XP_011531369.1:p.Ser410Arg
XM_017004778.2:c.1134T>A	XP_016860267.1:p.Ser378Arg
NM_001363823.2:c.1227T>A	NP_001350752.1:p.Ser409Arg
NM_001363875.2:c.1131T>A	NP_001350804.1:p.Ser377Arg
NM_001377959.1:c.1134T>A	NP_001364888.1:p.Ser378Arg
NM_014946.4:c.1230T>A MANE Select	NP_055761.2:p.Ser410Arg
NM_199436.2:c.1134T>A	NP_955468.1:p.Ser378Arg