Canonical Allele Identifier: CA2586964720

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128449dup , CM000664.2:g.32128449dup	GRCh38
NC_000002.11:g.32353518dup , CM000664.1:g.32353518dup	GRCh37
NC_000002.10:g.32207022dup	NCBI36
NG_008730.1:g.69839dup , LRG_714:g.69839dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*875dup	ENSP00000515816.1:n.*875dup
ENST00000315285.9:c.1215dup MANE Select	ENSP00000320885.3:p.Ile406TyrfsTer?
ENST00000621856.2:c.1212dup	ENSP00000482496.2:p.Ile405TyrfsTer?
ENST00000642281.1:c.983-8114dup
ENST00000642455.1:c.1116dup	ENSP00000493827.1:p.Ile373TyrfsTer?
ENST00000642751.1:c.989dup
ENST00000642999.1:c.957dup	ENSP00000496589.1:p.Ile320TyrfsTer?
ENST00000643327.1:c.374dup
ENST00000643334.1:c.795dup
ENST00000644408.1:c.1091dup
ENST00000644954.1:c.861dup	ENSP00000494312.1:p.Ile288TyrfsTer?
ENST00000645159.1:n.1952dup
ENST00000645550.1:n.428dup
ENST00000645671.1:c.665dup
ENST00000645730.1:c.562dup
ENST00000646082.1:c.861dup
ENST00000646571.1:c.1119dup	ENSP00000495015.1:p.Ile374TyrfsTer?
ENST00000647007.1:n.907dup
ENST00000647133.1:c.715dup
ENST00000315285.7:c.1215dup	ENSP00000320885.3:p.Ile406TyrfsTer?
ENST00000345662.5:c.1119dup	ENSP00000340817.1:p.Ile374TyrfsTer?
ENST00000615843.4:c.1215dup	ENSP00000480893.1:p.Ile406TyrfsTer?
ENST00000621856.1:c.957dup	ENSP00000482496.1:p.Ile320TyrfsTer?
NM_014946.3:c.1215dup , LRG_714t1:c.1215dup	NP_055761.2:p.Ile406TyrfsTer?
NM_199436.1:c.1119dup	NP_955468.1:p.Ile374TyrfsTer?
XM_005264516.3:c.1212dup	XP_005264573.1:p.Ile405TyrfsTer?
XM_011533067.1:c.1215dup	XP_011531369.1:p.Ile406TyrfsTer?
NM_001363823.1:c.1212dup	NP_001350752.1:p.Ile405TyrfsTer?
NM_001363875.1:c.1116dup	NP_001350804.1:p.Ile373TyrfsTer?
XM_005264516.5:c.1212dup	XP_005264573.1:p.Ile405TyrfsTer?
XM_011533067.2:c.1215dup	XP_011531369.1:p.Ile406TyrfsTer?
XM_017004778.2:c.1119dup	XP_016860267.1:p.Ile374TyrfsTer?
NM_001363823.2:c.1212dup	NP_001350752.1:p.Ile405TyrfsTer?
NM_001363875.2:c.1116dup	NP_001350804.1:p.Ile373TyrfsTer?
NM_001377959.1:c.1119dup	NP_001364888.1:p.Ile374TyrfsTer?
NM_014946.4:c.1215dup MANE Select	NP_055761.2:p.Ile406TyrfsTer?
NM_199436.2:c.1119dup	NP_955468.1:p.Ile374TyrfsTer?