Canonical Allele Identifier: CA425446880

Gene: SPAST

Linked Data

• ClinVar Variation Id: 896205
• ClinVar RCV Id: RCV001138716
• dbSNP Id: rs1679264088
• gnomAD v4: 2-32128416-A-G
• MyVariant Identifiers: chr2:g.32353485A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128416A>G , CM000664.2:g.32128416A>G	GRCh38
NC_000002.11:g.32353485A>G , CM000664.1:g.32353485A>G	GRCh37
NC_000002.10:g.32206989A>G	NCBI36
NG_008730.1:g.69806A>G , LRG_714:g.69806A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*842A>G	ENSP00000515816.1:n.*842A>G
ENST00000315285.9:c.1182A>G MANE Select	ENSP00000320885.3:p.Ala394=
ENST00000621856.2:c.1179A>G	ENSP00000482496.2:p.Ala393=
ENST00000642281.1:c.983-8147A>G
ENST00000642455.1:c.1083A>G	ENSP00000493827.1:p.Ala361=
ENST00000642751.1:c.956A>G
ENST00000642999.1:c.924A>G	ENSP00000496589.1:p.Ala308=
ENST00000643327.1:c.341A>G
ENST00000643334.1:c.762A>G
ENST00000644408.1:c.1058A>G
ENST00000644954.1:c.828A>G	ENSP00000494312.1:p.Ala276=
ENST00000645159.1:n.1919A>G
ENST00000645550.1:n.395A>G
ENST00000645671.1:c.632A>G
ENST00000645730.1:c.529A>G
ENST00000646082.1:c.828A>G
ENST00000646571.1:c.1086A>G	ENSP00000495015.1:p.Ala362=
ENST00000647007.1:n.874A>G
ENST00000647133.1:c.682A>G
ENST00000315285.7:c.1182A>G	ENSP00000320885.3:p.Ala394=
ENST00000345662.5:c.1086A>G	ENSP00000340817.1:p.Ala362=
ENST00000615843.4:c.1182A>G	ENSP00000480893.1:p.Ala394=
ENST00000621856.1:c.924A>G	ENSP00000482496.1:p.Ala308=
NM_014946.3:c.1182A>G , LRG_714t1:c.1182A>G	NP_055761.2:p.Ala394=
NM_199436.1:c.1086A>G	NP_955468.1:p.Ala362=
XM_005264516.3:c.1179A>G	XP_005264573.1:p.Ala393=
XM_011533067.1:c.1182A>G	XP_011531369.1:p.Ala394=
NM_001363823.1:c.1179A>G	NP_001350752.1:p.Ala393=
NM_001363875.1:c.1083A>G	NP_001350804.1:p.Ala361=
XM_005264516.5:c.1179A>G	XP_005264573.1:p.Ala393=
XM_011533067.2:c.1182A>G	XP_011531369.1:p.Ala394=
XM_017004778.2:c.1086A>G	XP_016860267.1:p.Ala362=
NM_001363823.2:c.1179A>G	NP_001350752.1:p.Ala393=
NM_001363875.2:c.1083A>G	NP_001350804.1:p.Ala361=
NM_001377959.1:c.1086A>G	NP_001364888.1:p.Ala362=
NM_014946.4:c.1182A>G MANE Select	NP_055761.2:p.Ala394=
NM_199436.2:c.1086A>G	NP_955468.1:p.Ala362=