Canonical Allele Identifier: CA425449194

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32362210A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137141A>T , CM000664.2:g.32137141A>T	GRCh38
NC_000002.11:g.32362210A>T , CM000664.1:g.32362210A>T	GRCh37
NC_000002.10:g.32215714A>T	NCBI36
NG_008730.1:g.78531A>T , LRG_714:g.78531A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1106A>T	ENSP00000515816.1:n.*1106A>T
ENST00000315285.9:c.1446A>T MANE Select	ENSP00000320885.3:p.Val482=
ENST00000621856.2:c.1443A>T	ENSP00000482496.2:p.Val481=
ENST00000642281.1:c.1183A>T
ENST00000642455.1:c.1347A>T	ENSP00000493827.1:p.Val449=
ENST00000642751.1:c.1220A>T
ENST00000642999.1:c.1188A>T	ENSP00000496589.1:p.Val396=
ENST00000643327.1:c.513A>T
ENST00000643334.1:c.1026A>T
ENST00000644408.1:c.1322A>T
ENST00000644954.1:c.1092A>T	ENSP00000494312.1:p.Val364=
ENST00000645159.1:n.2183A>T
ENST00000645671.1:c.896A>T
ENST00000645730.1:c.625A>T
ENST00000646082.1:c.1092A>T
ENST00000646571.1:c.1350A>T	ENSP00000495015.1:p.Val450=
ENST00000647007.1:n.1138A>T
ENST00000647133.1:c.946A>T
ENST00000315285.7:c.1446A>T	ENSP00000320885.3:p.Val482=
ENST00000345662.5:c.1350A>T	ENSP00000340817.1:p.Val450=
ENST00000615843.4:c.1446A>T	ENSP00000480893.1:p.Val482=
ENST00000621856.1:c.1188A>T	ENSP00000482496.1:p.Val396=
NM_014946.3:c.1446A>T , LRG_714t1:c.1446A>T	NP_055761.2:p.Val482=
NM_199436.1:c.1350A>T	NP_955468.1:p.Val450=
XM_005264516.3:c.1443A>T	XP_005264573.1:p.Val481=
XM_011533067.1:c.1446A>T	XP_011531369.1:p.Val482=
NM_001363823.1:c.1443A>T	NP_001350752.1:p.Val481=
NM_001363875.1:c.1347A>T	NP_001350804.1:p.Val449=
XM_005264516.5:c.1443A>T	XP_005264573.1:p.Val481=
XM_011533067.2:c.1446A>T	XP_011531369.1:p.Val482=
XM_017004778.2:c.1350A>T	XP_016860267.1:p.Val450=
NM_001363823.2:c.1443A>T	NP_001350752.1:p.Val481=
NM_001363875.2:c.1347A>T	NP_001350804.1:p.Val449=
NM_001377959.1:c.1350A>T	NP_001364888.1:p.Val450=
NM_014946.4:c.1446A>T MANE Select	NP_055761.2:p.Val482=
NM_199436.2:c.1350A>T	NP_955468.1:p.Val450=