Canonical Allele Identifier: CA346603147

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32087519G>A , CM000664.2:g.32087519G>A	GRCh38
NC_000002.11:g.32312588G>A , CM000664.1:g.32312588G>A	GRCh37
NC_000002.10:g.32166092G>A	NCBI36
NG_008730.1:g.28909G>A , LRG_714:g.28909G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.443G>A MANE Select	NP_055761.2:p.Trp148Ter
ENST00000315285.9:c.443G>A MANE Select	ENSP00000320885.3:p.Trp148Ter
NM_001363823.1:c.440G>A	NP_001350752.1:p.Trp147Ter
NM_001363823.2:c.440G>A	NP_001350752.1:p.Trp147Ter
NM_001363875.1:c.440G>A	NP_001350804.1:p.Trp147Ter
NM_001363875.2:c.440G>A	NP_001350804.1:p.Trp147Ter
NM_001377959.1:c.443G>A	NP_001364888.1:p.Trp148Ter
NM_014946.3:c.443G>A , LRG_714t1:c.443G>A	NP_055761.2:p.Trp148Ter
NM_199436.1:c.443G>A	NP_955468.1:p.Trp148Ter
NM_199436.2:c.443G>A	NP_955468.1:p.Trp148Ter
ENST00000315285.7:c.443G>A	ENSP00000320885.3:p.Trp148Ter
ENST00000345662.5:c.443G>A	ENSP00000340817.1:p.Trp148Ter
ENST00000615843.4:c.443G>A	ENSP00000480893.1:p.Trp148Ter
ENST00000621856.1:c.185G>A	ENSP00000482496.1:p.Trp62Ter
ENST00000621856.2:c.440G>A	ENSP00000482496.2:p.Trp147Ter
ENST00000642281.1:c.327G>A
ENST00000642455.1:c.440G>A	ENSP00000493827.1:p.Trp147Ter
ENST00000642751.1:c.313G>A
ENST00000642999.1:c.185G>A	ENSP00000496589.1:p.Trp62Ter
ENST00000643334.1:c.28G>A
ENST00000644408.1:c.319G>A
ENST00000644954.1:c.185G>A	ENSP00000494312.1:p.Trp62Ter
ENST00000645400.1:c.399G>A	ENSP00000496306.1:n.399G>A
ENST00000645671.1:c.37-11277G>A
ENST00000646082.1:c.277G>A
ENST00000646571.1:c.443G>A	ENSP00000495015.1:p.Trp148Ter
ENST00000647007.1:n.140G>A
ENST00000647133.1:c.18G>A
ENST00000704289.1:c.*103G>A	ENSP00000515816.1:n.*103G>A
XM_005264516.3:c.440G>A	XP_005264573.1:p.Trp147Ter
XM_005264516.5:c.440G>A	XP_005264573.1:p.Trp147Ter
XM_011533067.1:c.443G>A	XP_011531369.1:p.Trp148Ter
XM_011533067.2:c.443G>A	XP_011531369.1:p.Trp148Ter
XM_017004778.2:c.443G>A	XP_016860267.1:p.Trp148Ter