Canonical Allele Identifier: CA1600661

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32098835C>T , CM000664.2:g.32098835C>T	GRCh38
NC_000002.11:g.32323904C>T , CM000664.1:g.32323904C>T	GRCh37
NC_000002.10:g.32177408C>T	NCBI36
NG_008730.1:g.40225C>T , LRG_714:g.40225C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.626C>T MANE Select	NP_055761.2:p.Thr209Met
ENST00000315285.9:c.626C>T MANE Select	ENSP00000320885.3:p.Thr209Met
NM_001363823.1:c.623C>T	NP_001350752.1:p.Thr208Met
NM_001363823.2:c.623C>T	NP_001350752.1:p.Thr208Met
NM_001363875.1:c.583+9230C>T	NP_001350804.1:n.583+9230C>T
NM_001363875.2:c.583+9230C>T	NP_001350804.1:n.583+9230C>T
NM_001377959.1:c.586+9230C>T	NP_001364888.1:n.586+9230C>T
NM_014946.3:c.626C>T , LRG_714t1:c.626C>T	NP_055761.2:p.Thr209Met
NM_199436.1:c.586+9230C>T	NP_955468.1:n.586+9230C>T
NM_199436.2:c.586+9230C>T	NP_955468.1:n.586+9230C>T
ENST00000315285.7:c.626C>T	ENSP00000320885.3:p.Thr209Met
ENST00000345662.5:c.586+9230C>T	ENSP00000340817.1:n.586+9230C>T
ENST00000615843.4:c.626C>T	ENSP00000480893.1:p.Thr209Met
ENST00000621856.1:c.368C>T	ENSP00000482496.1:p.Thr123Met
ENST00000621856.2:c.623C>T	ENSP00000482496.2:p.Thr208Met
ENST00000642281.1:c.510C>T
ENST00000642455.1:c.583+9230C>T	ENSP00000493827.1:n.583+9230C>T
ENST00000642751.1:c.456+9230C>T
ENST00000642999.1:c.368C>T	ENSP00000496589.1:p.Thr123Met
ENST00000643334.1:c.206C>T
ENST00000644408.1:c.502C>T
ENST00000644954.1:c.328+9230C>T	ENSP00000494312.1:n.328+9230C>T
ENST00000645400.1:c.582C>T	ENSP00000496306.1:n.582C>T
ENST00000645671.1:c.76C>T
ENST00000646082.1:c.460C>T
ENST00000646571.1:c.586+9230C>T	ENSP00000495015.1:n.586+9230C>T
ENST00000647007.1:n.318C>T
ENST00000647133.1:c.201C>T
ENST00000704289.1:c.*286C>T	ENSP00000515816.1:n.*286C>T
XM_005264516.3:c.623C>T	XP_005264573.1:p.Thr208Met
XM_005264516.5:c.623C>T	XP_005264573.1:p.Thr208Met
XM_011533067.1:c.626C>T	XP_011531369.1:p.Thr209Met
XM_011533067.2:c.626C>T	XP_011531369.1:p.Thr209Met
XM_017004778.2:c.586+9230C>T	XP_016860267.1:n.586+9230C>T