Canonical Allele Identifier: CA346502544

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32362254T>A (hg19) ; chr2:g.32137185T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137185T>A , CM000664.2:g.32137185T>A	GRCh38
NC_000002.11:g.32362254T>A , CM000664.1:g.32362254T>A	GRCh37
NC_000002.10:g.32215758T>A	NCBI36
NG_008730.1:g.78575T>A , LRG_714:g.78575T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1150T>A	ENSP00000515816.1:n.*1150T>A
ENST00000315285.9:c.1490T>A MANE Select	ENSP00000320885.3:p.Leu497His
ENST00000621856.2:c.1487T>A	ENSP00000482496.2:p.Leu496His
ENST00000642281.1:c.1227T>A
ENST00000642455.1:c.1391T>A	ENSP00000493827.1:p.Leu464His
ENST00000642751.1:c.1264T>A
ENST00000642999.1:c.1232T>A	ENSP00000496589.1:p.Leu411His
ENST00000643327.1:c.557T>A
ENST00000643334.1:c.1070T>A
ENST00000644408.1:c.1366T>A
ENST00000644954.1:c.1136T>A	ENSP00000494312.1:p.Leu379His
ENST00000645159.1:n.2227T>A
ENST00000645671.1:c.940T>A
ENST00000645730.1:c.669T>A
ENST00000646082.1:c.1136T>A
ENST00000646571.1:c.1394T>A	ENSP00000495015.1:p.Leu465His
ENST00000647007.1:n.1182T>A
ENST00000647133.1:c.990T>A
ENST00000315285.7:c.1490T>A	ENSP00000320885.3:p.Leu497His
ENST00000345662.5:c.1394T>A	ENSP00000340817.1:p.Leu465His
ENST00000615843.4:c.1490T>A	ENSP00000480893.1:p.Leu497His
ENST00000621856.1:c.1232T>A	ENSP00000482496.1:p.Leu411His
NM_014946.3:c.1490T>A , LRG_714t1:c.1490T>A	NP_055761.2:p.Leu497His
NM_199436.1:c.1394T>A	NP_955468.1:p.Leu465His
XM_005264516.3:c.1487T>A	XP_005264573.1:p.Leu496His
XM_011533067.1:c.1490T>A	XP_011531369.1:p.Leu497His
NM_001363823.1:c.1487T>A	NP_001350752.1:p.Leu496His
NM_001363875.1:c.1391T>A	NP_001350804.1:p.Leu464His
XM_005264516.5:c.1487T>A	XP_005264573.1:p.Leu496His
XM_011533067.2:c.1490T>A	XP_011531369.1:p.Leu497His
XM_017004778.2:c.1394T>A	XP_016860267.1:p.Leu465His
NM_001363823.2:c.1487T>A	NP_001350752.1:p.Leu496His
NM_001363875.2:c.1391T>A	NP_001350804.1:p.Leu464His
NM_001377959.1:c.1394T>A	NP_001364888.1:p.Leu465His
NM_014946.4:c.1490T>A MANE Select	NP_055761.2:p.Leu497His
NM_199436.2:c.1394T>A	NP_955468.1:p.Leu465His