Canonical Allele Identifier: CA425456124

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32372291A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32147222A>T , CM000664.2:g.32147222A>T	GRCh38
NC_000002.11:g.32372291A>T , CM000664.1:g.32372291A>T	GRCh37
NC_000002.10:g.32225795A>T	NCBI36
NG_008730.1:g.88612A>T , LRG_714:g.88612A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1352A>T	ENSP00000515816.1:n.*1352A>T
ENST00000315285.9:c.1692A>T MANE Select	ENSP00000320885.3:p.Leu564=
ENST00000621856.2:c.1689A>T	ENSP00000482496.2:p.Leu563=
ENST00000642281.1:c.1429A>T
ENST00000642455.1:c.1593A>T	ENSP00000493827.1:p.Leu531=
ENST00000642751.1:c.1395A>T
ENST00000642999.1:c.1434A>T	ENSP00000496589.1:p.Leu478=
ENST00000643334.1:c.1272A>T
ENST00000644408.1:c.1591A>T
ENST00000644954.1:c.1338A>T	ENSP00000494312.1:p.Leu446=
ENST00000645159.1:n.2429A>T
ENST00000645671.1:c.1071A>T
ENST00000645730.1:c.871A>T
ENST00000646082.1:c.1338A>T
ENST00000646571.1:c.1596A>T	ENSP00000495015.1:p.Leu532=
ENST00000647007.1:n.1384A>T
ENST00000647133.1:c.1192A>T
ENST00000315285.7:c.1692A>T	ENSP00000320885.3:p.Leu564=
ENST00000345662.5:c.1596A>T	ENSP00000340817.1:p.Leu532=
ENST00000615843.4:c.1692A>T	ENSP00000480893.1:p.Leu564=
ENST00000621856.1:c.1434A>T	ENSP00000482496.1:p.Leu478=
NM_014946.3:c.1692A>T , LRG_714t1:c.1692A>T	NP_055761.2:p.Leu564=
NM_199436.1:c.1596A>T	NP_955468.1:p.Leu532=
XM_005264516.3:c.1689A>T	XP_005264573.1:p.Leu563=
XM_011533067.1:c.1621A>T	XP_011531369.1:p.Lys541Ter
NM_001363823.1:c.1689A>T	NP_001350752.1:p.Leu563=
NM_001363875.1:c.1593A>T	NP_001350804.1:p.Leu531=
XM_005264516.5:c.1689A>T	XP_005264573.1:p.Leu563=
XM_011533067.2:c.1621A>T	XP_011531369.1:p.Lys541Ter
XM_017004778.2:c.1525A>T	XP_016860267.1:p.Lys509Ter
NM_001363823.2:c.1689A>T	NP_001350752.1:p.Leu563=
NM_001363875.2:c.1593A>T	NP_001350804.1:p.Leu531=
NM_001377959.1:c.1525A>T	NP_001364888.1:p.Lys509Ter
NM_014946.4:c.1692A>T MANE Select	NP_055761.2:p.Leu564=
NM_199436.2:c.1596A>T	NP_955468.1:p.Leu532=