Canonical Allele Identifier: CA346502049

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32361663T>A (hg19) ; chr2:g.32136594T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136594T>A , CM000664.2:g.32136594T>A	GRCh38
NC_000002.11:g.32361663T>A , CM000664.1:g.32361663T>A	GRCh37
NC_000002.10:g.32215167T>A	NCBI36
NG_008730.1:g.77984T>A , LRG_714:g.77984T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*937T>A	ENSP00000515816.1:n.*937T>A
ENST00000315285.9:c.1277T>A MANE Select	ENSP00000320885.3:p.Leu426His
ENST00000621856.2:c.1274T>A	ENSP00000482496.2:p.Leu425His
ENST00000642281.1:c.1014T>A
ENST00000642455.1:c.1178T>A	ENSP00000493827.1:p.Leu393His
ENST00000642751.1:c.1051T>A
ENST00000642999.1:c.1019T>A	ENSP00000496589.1:p.Leu340His
ENST00000643327.1:c.436T>A
ENST00000643334.1:c.857T>A
ENST00000644408.1:c.1153T>A
ENST00000644954.1:c.923T>A	ENSP00000494312.1:p.Leu308His
ENST00000645159.1:n.2014T>A
ENST00000645671.1:c.727T>A
ENST00000645730.1:c.593-515T>A
ENST00000646082.1:c.923T>A
ENST00000646571.1:c.1181T>A	ENSP00000495015.1:p.Leu394His
ENST00000647007.1:n.969T>A
ENST00000647133.1:c.777T>A
ENST00000315285.7:c.1277T>A	ENSP00000320885.3:p.Leu426His
ENST00000345662.5:c.1181T>A	ENSP00000340817.1:p.Leu394His
ENST00000615843.4:c.1277T>A	ENSP00000480893.1:p.Leu426His
ENST00000621856.1:c.1019T>A	ENSP00000482496.1:p.Leu340His
NM_014946.3:c.1277T>A , LRG_714t1:c.1277T>A	NP_055761.2:p.Leu426His
NM_199436.1:c.1181T>A	NP_955468.1:p.Leu394His
XM_005264516.3:c.1274T>A	XP_005264573.1:p.Leu425His
XM_011533067.1:c.1277T>A	XP_011531369.1:p.Leu426His
NM_001363823.1:c.1274T>A	NP_001350752.1:p.Leu425His
NM_001363875.1:c.1178T>A	NP_001350804.1:p.Leu393His
XM_005264516.5:c.1274T>A	XP_005264573.1:p.Leu425His
XM_011533067.2:c.1277T>A	XP_011531369.1:p.Leu426His
XM_017004778.2:c.1181T>A	XP_016860267.1:p.Leu394His
NM_001363823.2:c.1274T>A	NP_001350752.1:p.Leu425His
NM_001363875.2:c.1178T>A	NP_001350804.1:p.Leu393His
NM_001377959.1:c.1181T>A	NP_001364888.1:p.Leu394His
NM_014946.4:c.1277T>A MANE Select	NP_055761.2:p.Leu426His
NM_199436.2:c.1181T>A	NP_955468.1:p.Leu394His