Canonical Allele Identifier: CA346501469

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32353525G>T (hg19) ; chr2:g.32128456G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128456G>T , CM000664.2:g.32128456G>T	GRCh38
NC_000002.11:g.32353525G>T , CM000664.1:g.32353525G>T	GRCh37
NC_000002.10:g.32207029G>T	NCBI36
NG_008730.1:g.69846G>T , LRG_714:g.69846G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*882G>T	ENSP00000515816.1:n.*882G>T
ENST00000315285.9:c.1222G>T MANE Select	ENSP00000320885.3:p.Ala408Ser
ENST00000621856.2:c.1219G>T	ENSP00000482496.2:p.Ala407Ser
ENST00000642281.1:c.983-8107G>T
ENST00000642455.1:c.1123G>T	ENSP00000493827.1:p.Ala375Ser
ENST00000642751.1:c.996G>T
ENST00000642999.1:c.964G>T	ENSP00000496589.1:p.Ala322Ser
ENST00000643327.1:c.381G>T
ENST00000643334.1:c.802G>T
ENST00000644408.1:c.1098G>T
ENST00000644954.1:c.868G>T	ENSP00000494312.1:p.Ala290Ser
ENST00000645159.1:n.1959G>T
ENST00000645550.1:n.435G>T
ENST00000645671.1:c.672G>T
ENST00000645730.1:c.569G>T
ENST00000646082.1:c.868G>T
ENST00000646571.1:c.1126G>T	ENSP00000495015.1:p.Ala376Ser
ENST00000647007.1:n.914G>T
ENST00000647133.1:c.722G>T
ENST00000315285.7:c.1222G>T	ENSP00000320885.3:p.Ala408Ser
ENST00000345662.5:c.1126G>T	ENSP00000340817.1:p.Ala376Ser
ENST00000615843.4:c.1222G>T	ENSP00000480893.1:p.Ala408Ser
ENST00000621856.1:c.964G>T	ENSP00000482496.1:p.Ala322Ser
NM_014946.3:c.1222G>T , LRG_714t1:c.1222G>T	NP_055761.2:p.Ala408Ser
NM_199436.1:c.1126G>T	NP_955468.1:p.Ala376Ser
XM_005264516.3:c.1219G>T	XP_005264573.1:p.Ala407Ser
XM_011533067.1:c.1222G>T	XP_011531369.1:p.Ala408Ser
NM_001363823.1:c.1219G>T	NP_001350752.1:p.Ala407Ser
NM_001363875.1:c.1123G>T	NP_001350804.1:p.Ala375Ser
XM_005264516.5:c.1219G>T	XP_005264573.1:p.Ala407Ser
XM_011533067.2:c.1222G>T	XP_011531369.1:p.Ala408Ser
XM_017004778.2:c.1126G>T	XP_016860267.1:p.Ala376Ser
NM_001363823.2:c.1219G>T	NP_001350752.1:p.Ala407Ser
NM_001363875.2:c.1123G>T	NP_001350804.1:p.Ala375Ser
NM_001377959.1:c.1126G>T	NP_001364888.1:p.Ala376Ser
NM_014946.4:c.1222G>T MANE Select	NP_055761.2:p.Ala408Ser
NM_199436.2:c.1126G>T	NP_955468.1:p.Ala376Ser