Canonical Allele Identifier: CA346502471

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137152C>T , CM000664.2:g.32137152C>T	GRCh38
NC_000002.11:g.32362221C>T , CM000664.1:g.32362221C>T	GRCh37
NC_000002.10:g.32215725C>T	NCBI36
NG_008730.1:g.78542C>T , LRG_714:g.78542C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1457C>T MANE Select	NP_055761.2:p.Thr486Ile
ENST00000315285.9:c.1457C>T MANE Select	ENSP00000320885.3:p.Thr486Ile
NM_001363823.1:c.1454C>T	NP_001350752.1:p.Thr485Ile
NM_001363823.2:c.1454C>T	NP_001350752.1:p.Thr485Ile
NM_001363875.1:c.1358C>T	NP_001350804.1:p.Thr453Ile
NM_001363875.2:c.1358C>T	NP_001350804.1:p.Thr453Ile
NM_001377959.1:c.1361C>T	NP_001364888.1:p.Thr454Ile
NM_014946.3:c.1457C>T , LRG_714t1:c.1457C>T	NP_055761.2:p.Thr486Ile
NM_199436.1:c.1361C>T	NP_955468.1:p.Thr454Ile
NM_199436.2:c.1361C>T	NP_955468.1:p.Thr454Ile
ENST00000315285.7:c.1457C>T	ENSP00000320885.3:p.Thr486Ile
ENST00000345662.5:c.1361C>T	ENSP00000340817.1:p.Thr454Ile
ENST00000615843.4:c.1457C>T	ENSP00000480893.1:p.Thr486Ile
ENST00000621856.1:c.1199C>T	ENSP00000482496.1:p.Thr400Ile
ENST00000621856.2:c.1454C>T	ENSP00000482496.2:p.Thr485Ile
ENST00000642281.1:c.1194C>T
ENST00000642455.1:c.1358C>T	ENSP00000493827.1:p.Thr453Ile
ENST00000642751.1:c.1231C>T
ENST00000642999.1:c.1199C>T	ENSP00000496589.1:p.Thr400Ile
ENST00000643327.1:c.524C>T
ENST00000643334.1:c.1037C>T
ENST00000644408.1:c.1333C>T
ENST00000644954.1:c.1103C>T	ENSP00000494312.1:p.Thr368Ile
ENST00000645159.1:n.2194C>T
ENST00000645671.1:c.907C>T
ENST00000645730.1:c.636C>T
ENST00000646082.1:c.1103C>T
ENST00000646571.1:c.1361C>T	ENSP00000495015.1:p.Thr454Ile
ENST00000647007.1:n.1149C>T
ENST00000647133.1:c.957C>T
ENST00000704289.1:c.*1117C>T	ENSP00000515816.1:n.*1117C>T
XM_005264516.3:c.1454C>T	XP_005264573.1:p.Thr485Ile
XM_005264516.5:c.1454C>T	XP_005264573.1:p.Thr485Ile
XM_011533067.1:c.1457C>T	XP_011531369.1:p.Thr486Ile
XM_011533067.2:c.1457C>T	XP_011531369.1:p.Thr486Ile
XM_017004778.2:c.1361C>T	XP_016860267.1:p.Thr454Ile