Canonical Allele Identifier: CA346502827

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32141906G>T , CM000664.2:g.32141906G>T	GRCh38
NC_000002.11:g.32366975G>T , CM000664.1:g.32366975G>T	GRCh37
NC_000002.10:g.32220479G>T	NCBI36
NG_008730.1:g.83296G>T , LRG_714:g.83296G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1496G>T MANE Select	NP_055761.2:p.Arg499Leu
ENST00000315285.9:c.1496G>T MANE Select	ENSP00000320885.3:p.Arg499Leu
NM_001363823.1:c.1493G>T	NP_001350752.1:p.Arg498Leu
NM_001363823.2:c.1493G>T	NP_001350752.1:p.Arg498Leu
NM_001363875.1:c.1397G>T	NP_001350804.1:p.Arg466Leu
NM_001363875.2:c.1397G>T	NP_001350804.1:p.Arg466Leu
NM_001377959.1:c.1400G>T	NP_001364888.1:p.Arg467Leu
NM_014946.3:c.1496G>T , LRG_714t1:c.1496G>T	NP_055761.2:p.Arg499Leu
NM_199436.1:c.1400G>T	NP_955468.1:p.Arg467Leu
NM_199436.2:c.1400G>T	NP_955468.1:p.Arg467Leu
ENST00000315285.7:c.1496G>T	ENSP00000320885.3:p.Arg499Leu
ENST00000345662.5:c.1400G>T	ENSP00000340817.1:p.Arg467Leu
ENST00000615843.4:c.1496G>T	ENSP00000480893.1:p.Arg499Leu
ENST00000621856.1:c.1238G>T	ENSP00000482496.1:p.Arg413Leu
ENST00000621856.2:c.1493G>T	ENSP00000482496.2:p.Arg498Leu
ENST00000642281.1:c.1233G>T
ENST00000642455.1:c.1397G>T	ENSP00000493827.1:p.Arg466Leu
ENST00000642751.1:c.1270G>T
ENST00000642999.1:c.1238G>T	ENSP00000496589.1:p.Arg413Leu
ENST00000643327.1:c.563G>T
ENST00000643334.1:c.1076G>T
ENST00000644408.1:c.1372G>T
ENST00000644954.1:c.1142G>T	ENSP00000494312.1:p.Arg381Leu
ENST00000645159.1:n.2233G>T
ENST00000645671.1:c.946G>T
ENST00000645730.1:c.675G>T
ENST00000646082.1:c.1142G>T
ENST00000646571.1:c.1400G>T	ENSP00000495015.1:p.Arg467Leu
ENST00000647007.1:n.1188G>T
ENST00000647133.1:c.996G>T
ENST00000704289.1:c.*1156G>T	ENSP00000515816.1:n.*1156G>T
XM_005264516.3:c.1493G>T	XP_005264573.1:p.Arg498Leu
XM_005264516.5:c.1493G>T	XP_005264573.1:p.Arg498Leu
XM_011533067.1:c.1496G>T	XP_011531369.1:p.Arg499Leu
XM_011533067.2:c.1496G>T	XP_011531369.1:p.Arg499Leu
XM_017004778.2:c.1400G>T	XP_016860267.1:p.Arg467Leu