Canonical Allele Identifier: CA425448660

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32361697A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136628A>T , CM000664.2:g.32136628A>T	GRCh38
NC_000002.11:g.32361697A>T , CM000664.1:g.32361697A>T	GRCh37
NC_000002.10:g.32215201A>T	NCBI36
NG_008730.1:g.78018A>T , LRG_714:g.78018A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*971A>T	ENSP00000515816.1:n.*971A>T
ENST00000315285.9:c.1311A>T MANE Select	ENSP00000320885.3:p.Ile437=
ENST00000621856.2:c.1308A>T	ENSP00000482496.2:p.Ile436=
ENST00000642281.1:c.1048A>T
ENST00000642455.1:c.1212A>T	ENSP00000493827.1:p.Ile404=
ENST00000642751.1:c.1085A>T
ENST00000642999.1:c.1053A>T	ENSP00000496589.1:p.Ile351=
ENST00000643327.1:c.470A>T
ENST00000643334.1:c.891A>T
ENST00000644408.1:c.1187A>T
ENST00000644954.1:c.957A>T	ENSP00000494312.1:p.Ile319=
ENST00000645159.1:n.2048A>T
ENST00000645671.1:c.761A>T
ENST00000645730.1:c.593-481A>T
ENST00000646082.1:c.957A>T
ENST00000646571.1:c.1215A>T	ENSP00000495015.1:p.Ile405=
ENST00000647007.1:n.1003A>T
ENST00000647133.1:c.811A>T
ENST00000315285.7:c.1311A>T	ENSP00000320885.3:p.Ile437=
ENST00000345662.5:c.1215A>T	ENSP00000340817.1:p.Ile405=
ENST00000615843.4:c.1311A>T	ENSP00000480893.1:p.Ile437=
ENST00000621856.1:c.1053A>T	ENSP00000482496.1:p.Ile351=
NM_014946.3:c.1311A>T , LRG_714t1:c.1311A>T	NP_055761.2:p.Ile437=
NM_199436.1:c.1215A>T	NP_955468.1:p.Ile405=
XM_005264516.3:c.1308A>T	XP_005264573.1:p.Ile436=
XM_011533067.1:c.1311A>T	XP_011531369.1:p.Ile437=
NM_001363823.1:c.1308A>T	NP_001350752.1:p.Ile436=
NM_001363875.1:c.1212A>T	NP_001350804.1:p.Ile404=
XM_005264516.5:c.1308A>T	XP_005264573.1:p.Ile436=
XM_011533067.2:c.1311A>T	XP_011531369.1:p.Ile437=
XM_017004778.2:c.1215A>T	XP_016860267.1:p.Ile405=
NM_001363823.2:c.1308A>T	NP_001350752.1:p.Ile436=
NM_001363875.2:c.1212A>T	NP_001350804.1:p.Ile404=
NM_001377959.1:c.1215A>T	NP_001364888.1:p.Ile405=
NM_014946.4:c.1311A>T MANE Select	NP_055761.2:p.Ile437=
NM_199436.2:c.1215A>T	NP_955468.1:p.Ile405=