Canonical Allele Identifier: CA1600693

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32114667C>A , CM000664.2:g.32114667C>A	GRCh38
NC_000002.11:g.32339736C>A , CM000664.1:g.32339736C>A	GRCh37
NC_000002.10:g.32193240C>A	NCBI36
NG_008730.1:g.56057C>A , LRG_714:g.56057C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.712C>A MANE Select	NP_055761.2:p.Pro238Thr
ENST00000315285.9:c.712C>A MANE Select	ENSP00000320885.3:p.Pro238Thr
NM_001363823.1:c.709C>A	NP_001350752.1:p.Pro237Thr
NM_001363823.2:c.709C>A	NP_001350752.1:p.Pro237Thr
NM_001363875.1:c.613C>A	NP_001350804.1:p.Pro205Thr
NM_001363875.2:c.613C>A	NP_001350804.1:p.Pro205Thr
NM_001377959.1:c.616C>A	NP_001364888.1:p.Pro206Thr
NM_014946.3:c.712C>A , LRG_714t1:c.712C>A	NP_055761.2:p.Pro238Thr
NM_199436.1:c.616C>A	NP_955468.1:p.Pro206Thr
NM_199436.2:c.616C>A	NP_955468.1:p.Pro206Thr
ENST00000315285.7:c.712C>A	ENSP00000320885.3:p.Pro238Thr
ENST00000345662.5:c.616C>A	ENSP00000340817.1:p.Pro206Thr
ENST00000615843.4:c.712C>A	ENSP00000480893.1:p.Pro238Thr
ENST00000621856.1:c.454C>A	ENSP00000482496.1:p.Pro152Thr
ENST00000621856.2:c.709C>A	ENSP00000482496.2:p.Pro237Thr
ENST00000642281.1:c.596C>A
ENST00000642455.1:c.613C>A	ENSP00000493827.1:p.Pro205Thr
ENST00000642751.1:c.486C>A
ENST00000642999.1:c.454C>A	ENSP00000496589.1:p.Pro152Thr
ENST00000643334.1:c.292C>A
ENST00000644408.1:c.588C>A
ENST00000644954.1:c.358C>A	ENSP00000494312.1:p.Pro120Thr
ENST00000645400.1:c.668C>A	ENSP00000496306.1:n.668C>A
ENST00000645671.1:c.162C>A
ENST00000645730.1:c.59C>A
ENST00000646082.1:c.517-1035C>A
ENST00000646571.1:c.616C>A	ENSP00000495015.1:p.Pro206Thr
ENST00000647007.1:n.404C>A
ENST00000647133.1:c.287C>A
ENST00000704289.1:c.*372C>A	ENSP00000515816.1:n.*372C>A
XM_005264516.3:c.709C>A	XP_005264573.1:p.Pro237Thr
XM_005264516.5:c.709C>A	XP_005264573.1:p.Pro237Thr
XM_011533067.1:c.712C>A	XP_011531369.1:p.Pro238Thr
XM_011533067.2:c.712C>A	XP_011531369.1:p.Pro238Thr
XM_017004778.2:c.616C>A	XP_016860267.1:p.Pro206Thr