Canonical Allele Identifier: CA425446566

Gene: SPAST

Linked Data

• ClinVar Variation Id: 2193174
• ClinVar RCV Id: RCV002607853
• MyVariant Identifiers: chr2:g.32352037T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126968T>C , CM000664.2:g.32126968T>C	GRCh38
NC_000002.11:g.32352037T>C , CM000664.1:g.32352037T>C	GRCh37
NC_000002.10:g.32205541T>C	NCBI36
NG_008730.1:g.68358T>C , LRG_714:g.68358T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*779T>C	ENSP00000515816.1:n.*779T>C
ENST00000315285.9:c.1119T>C MANE Select	ENSP00000320885.3:p.Ala373=
ENST00000621856.2:c.1116T>C	ENSP00000482496.2:p.Ala372=
ENST00000642281.1:c.983-9595T>C
ENST00000642455.1:c.1020T>C	ENSP00000493827.1:p.Ala340=
ENST00000642751.1:c.893T>C
ENST00000642999.1:c.861T>C	ENSP00000496589.1:p.Ala287=
ENST00000643327.1:c.278T>C
ENST00000643334.1:c.699T>C
ENST00000644408.1:c.995T>C
ENST00000644954.1:c.765T>C	ENSP00000494312.1:p.Ala255=
ENST00000645159.1:n.471T>C
ENST00000645550.1:n.332T>C
ENST00000645671.1:c.569T>C
ENST00000645730.1:c.466T>C
ENST00000646082.1:c.765T>C
ENST00000646571.1:c.1023T>C	ENSP00000495015.1:p.Ala341=
ENST00000647007.1:n.811T>C
ENST00000647133.1:c.674-1440T>C
ENST00000315285.7:c.1119T>C	ENSP00000320885.3:p.Ala373=
ENST00000345662.5:c.1023T>C	ENSP00000340817.1:p.Ala341=
ENST00000615843.4:c.1119T>C	ENSP00000480893.1:p.Ala373=
ENST00000621856.1:c.861T>C	ENSP00000482496.1:p.Ala287=
NM_014946.3:c.1119T>C , LRG_714t1:c.1119T>C	NP_055761.2:p.Ala373=
NM_199436.1:c.1023T>C	NP_955468.1:p.Ala341=
XM_005264516.3:c.1116T>C	XP_005264573.1:p.Ala372=
XM_011533067.1:c.1119T>C	XP_011531369.1:p.Ala373=
NM_001363823.1:c.1116T>C	NP_001350752.1:p.Ala372=
NM_001363875.1:c.1020T>C	NP_001350804.1:p.Ala340=
XM_005264516.5:c.1116T>C	XP_005264573.1:p.Ala372=
XM_011533067.2:c.1119T>C	XP_011531369.1:p.Ala373=
XM_017004778.2:c.1023T>C	XP_016860267.1:p.Ala341=
NM_001363823.2:c.1116T>C	NP_001350752.1:p.Ala372=
NM_001363875.2:c.1020T>C	NP_001350804.1:p.Ala340=
NM_001377959.1:c.1023T>C	NP_001364888.1:p.Ala341=
NM_014946.4:c.1119T>C MANE Select	NP_055761.2:p.Ala373=
NM_199436.2:c.1023T>C	NP_955468.1:p.Ala341=