Canonical Allele Identifier: CA346502403

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32362191G>A (hg19) ; chr2:g.32137122G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137122G>A , CM000664.2:g.32137122G>A	GRCh38
NC_000002.11:g.32362191G>A , CM000664.1:g.32362191G>A	GRCh37
NC_000002.10:g.32215695G>A	NCBI36
NG_008730.1:g.78512G>A , LRG_714:g.78512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1087G>A	ENSP00000515816.1:n.*1087G>A
ENST00000315285.9:c.1427G>A MANE Select	ENSP00000320885.3:p.Gly476Glu
ENST00000621856.2:c.1424G>A	ENSP00000482496.2:p.Gly475Glu
ENST00000642281.1:c.1164G>A
ENST00000642455.1:c.1328G>A	ENSP00000493827.1:p.Gly443Glu
ENST00000642751.1:c.1201G>A
ENST00000642999.1:c.1169G>A	ENSP00000496589.1:p.Gly390Glu
ENST00000643327.1:c.494G>A
ENST00000643334.1:c.1007G>A
ENST00000644408.1:c.1303G>A
ENST00000644954.1:c.1073G>A	ENSP00000494312.1:p.Gly358Glu
ENST00000645159.1:n.2164G>A
ENST00000645671.1:c.877G>A
ENST00000645730.1:c.606G>A
ENST00000646082.1:c.1073G>A
ENST00000646571.1:c.1331G>A	ENSP00000495015.1:p.Gly444Glu
ENST00000647007.1:n.1119G>A
ENST00000647133.1:c.927G>A
ENST00000315285.7:c.1427G>A	ENSP00000320885.3:p.Gly476Glu
ENST00000345662.5:c.1331G>A	ENSP00000340817.1:p.Gly444Glu
ENST00000615843.4:c.1427G>A	ENSP00000480893.1:p.Gly476Glu
ENST00000621856.1:c.1169G>A	ENSP00000482496.1:p.Gly390Glu
NM_014946.3:c.1427G>A , LRG_714t1:c.1427G>A	NP_055761.2:p.Gly476Glu
NM_199436.1:c.1331G>A	NP_955468.1:p.Gly444Glu
XM_005264516.3:c.1424G>A	XP_005264573.1:p.Gly475Glu
XM_011533067.1:c.1427G>A	XP_011531369.1:p.Gly476Glu
NM_001363823.1:c.1424G>A	NP_001350752.1:p.Gly475Glu
NM_001363875.1:c.1328G>A	NP_001350804.1:p.Gly443Glu
XM_005264516.5:c.1424G>A	XP_005264573.1:p.Gly475Glu
XM_011533067.2:c.1427G>A	XP_011531369.1:p.Gly476Glu
XM_017004778.2:c.1331G>A	XP_016860267.1:p.Gly444Glu
NM_001363823.2:c.1424G>A	NP_001350752.1:p.Gly475Glu
NM_001363875.2:c.1328G>A	NP_001350804.1:p.Gly443Glu
NM_001377959.1:c.1331G>A	NP_001364888.1:p.Gly444Glu
NM_014946.4:c.1427G>A MANE Select	NP_055761.2:p.Gly476Glu
NM_199436.2:c.1331G>A	NP_955468.1:p.Gly444Glu