Canonical Allele Identifier: CA346499322

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32115814T>C , CM000664.2:g.32115814T>C	GRCh38
NC_000002.11:g.32340883T>C , CM000664.1:g.32340883T>C	GRCh37
NC_000002.10:g.32194387T>C	NCBI36
NG_008730.1:g.57204T>C , LRG_714:g.57204T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.983T>C MANE Select	NP_055761.2:p.Ile328Thr
ENST00000315285.9:c.983T>C MANE Select	ENSP00000320885.3:p.Ile328Thr
NM_001363823.1:c.980T>C	NP_001350752.1:p.Ile327Thr
NM_001363823.2:c.980T>C	NP_001350752.1:p.Ile327Thr
NM_001363875.1:c.884T>C	NP_001350804.1:p.Ile295Thr
NM_001363875.2:c.884T>C	NP_001350804.1:p.Ile295Thr
NM_001377959.1:c.887T>C	NP_001364888.1:p.Ile296Thr
NM_014946.3:c.983T>C , LRG_714t1:c.983T>C	NP_055761.2:p.Ile328Thr
NM_199436.1:c.887T>C	NP_955468.1:p.Ile296Thr
NM_199436.2:c.887T>C	NP_955468.1:p.Ile296Thr
ENST00000315285.7:c.983T>C	ENSP00000320885.3:p.Ile328Thr
ENST00000345662.5:c.887T>C	ENSP00000340817.1:p.Ile296Thr
ENST00000615843.4:c.983T>C	ENSP00000480893.1:p.Ile328Thr
ENST00000621856.1:c.725T>C	ENSP00000482496.1:p.Ile242Thr
ENST00000621856.2:c.980T>C	ENSP00000482496.2:p.Ile327Thr
ENST00000642281.1:c.867T>C
ENST00000642455.1:c.884T>C	ENSP00000493827.1:p.Ile295Thr
ENST00000642751.1:c.757T>C
ENST00000642999.1:c.725T>C	ENSP00000496589.1:p.Ile242Thr
ENST00000643327.1:c.142T>C
ENST00000643334.1:c.563T>C
ENST00000644408.1:c.859T>C
ENST00000644954.1:c.629T>C	ENSP00000494312.1:p.Ile210Thr
ENST00000645671.1:c.433T>C
ENST00000645730.1:c.330T>C
ENST00000646082.1:c.629T>C
ENST00000646571.1:c.887T>C	ENSP00000495015.1:p.Ile296Thr
ENST00000647007.1:n.675T>C
ENST00000647133.1:c.558T>C
ENST00000704289.1:c.*643T>C	ENSP00000515816.1:n.*643T>C
XM_005264516.3:c.980T>C	XP_005264573.1:p.Ile327Thr
XM_005264516.5:c.980T>C	XP_005264573.1:p.Ile327Thr
XM_011533067.1:c.983T>C	XP_011531369.1:p.Ile328Thr
XM_011533067.2:c.983T>C	XP_011531369.1:p.Ile328Thr
XM_017004778.2:c.887T>C	XP_016860267.1:p.Ile296Thr