Canonical Allele Identifier: CA346502201

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32361965G>T (hg19) ; chr2:g.32136896G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136896G>T , CM000664.2:g.32136896G>T	GRCh38
NC_000002.11:g.32361965G>T , CM000664.1:g.32361965G>T	GRCh37
NC_000002.10:g.32215469G>T	NCBI36
NG_008730.1:g.78286G>T , LRG_714:g.78286G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1001G>T	ENSP00000515816.1:n.*1001G>T
ENST00000315285.9:c.1341G>T MANE Select	ENSP00000320885.3:p.Leu447Phe
ENST00000621856.2:c.1338G>T	ENSP00000482496.2:p.Leu446Phe
ENST00000642281.1:c.1078G>T
ENST00000642455.1:c.1242G>T	ENSP00000493827.1:p.Leu414Phe
ENST00000642751.1:c.1115G>T
ENST00000642999.1:c.1083G>T	ENSP00000496589.1:p.Leu361Phe
ENST00000643327.1:c.481-213G>T
ENST00000643334.1:c.921G>T
ENST00000644408.1:c.1217G>T
ENST00000644954.1:c.987G>T	ENSP00000494312.1:p.Leu329Phe
ENST00000645159.1:n.2078G>T
ENST00000645671.1:c.791G>T
ENST00000645730.1:c.593-213G>T
ENST00000646082.1:c.987G>T
ENST00000646571.1:c.1245G>T	ENSP00000495015.1:p.Leu415Phe
ENST00000647007.1:n.1033G>T
ENST00000647133.1:c.841G>T
ENST00000315285.7:c.1341G>T	ENSP00000320885.3:p.Leu447Phe
ENST00000345662.5:c.1245G>T	ENSP00000340817.1:p.Leu415Phe
ENST00000615843.4:c.1341G>T	ENSP00000480893.1:p.Leu447Phe
ENST00000621856.1:c.1083G>T	ENSP00000482496.1:p.Leu361Phe
NM_014946.3:c.1341G>T , LRG_714t1:c.1341G>T	NP_055761.2:p.Leu447Phe
NM_199436.1:c.1245G>T	NP_955468.1:p.Leu415Phe
XM_005264516.3:c.1338G>T	XP_005264573.1:p.Leu446Phe
XM_011533067.1:c.1341G>T	XP_011531369.1:p.Leu447Phe
NM_001363823.1:c.1338G>T	NP_001350752.1:p.Leu446Phe
NM_001363875.1:c.1242G>T	NP_001350804.1:p.Leu414Phe
XM_005264516.5:c.1338G>T	XP_005264573.1:p.Leu446Phe
XM_011533067.2:c.1341G>T	XP_011531369.1:p.Leu447Phe
XM_017004778.2:c.1245G>T	XP_016860267.1:p.Leu415Phe
NM_001363823.2:c.1338G>T	NP_001350752.1:p.Leu446Phe
NM_001363875.2:c.1242G>T	NP_001350804.1:p.Leu414Phe
NM_001377959.1:c.1245G>T	NP_001364888.1:p.Leu415Phe
NM_014946.4:c.1341G>T MANE Select	NP_055761.2:p.Leu447Phe
NM_199436.2:c.1245G>T	NP_955468.1:p.Leu415Phe