Canonical Allele Identifier: CA425448579

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32361685T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136616T>G , CM000664.2:g.32136616T>G	GRCh38
NC_000002.11:g.32361685T>G , CM000664.1:g.32361685T>G	GRCh37
NC_000002.10:g.32215189T>G	NCBI36
NG_008730.1:g.78006T>G , LRG_714:g.78006T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*959T>G	ENSP00000515816.1:n.*959T>G
ENST00000315285.9:c.1299T>G MANE Select	ENSP00000320885.3:p.Leu433=
ENST00000621856.2:c.1296T>G	ENSP00000482496.2:p.Leu432=
ENST00000642281.1:c.1036T>G
ENST00000642455.1:c.1200T>G	ENSP00000493827.1:p.Leu400=
ENST00000642751.1:c.1073T>G
ENST00000642999.1:c.1041T>G	ENSP00000496589.1:p.Leu347=
ENST00000643327.1:c.458T>G
ENST00000643334.1:c.879T>G
ENST00000644408.1:c.1175T>G
ENST00000644954.1:c.945T>G	ENSP00000494312.1:p.Leu315=
ENST00000645159.1:n.2036T>G
ENST00000645671.1:c.749T>G
ENST00000645730.1:c.593-493T>G
ENST00000646082.1:c.945T>G
ENST00000646571.1:c.1203T>G	ENSP00000495015.1:p.Leu401=
ENST00000647007.1:n.991T>G
ENST00000647133.1:c.799T>G
ENST00000315285.7:c.1299T>G	ENSP00000320885.3:p.Leu433=
ENST00000345662.5:c.1203T>G	ENSP00000340817.1:p.Leu401=
ENST00000615843.4:c.1299T>G	ENSP00000480893.1:p.Leu433=
ENST00000621856.1:c.1041T>G	ENSP00000482496.1:p.Leu347=
NM_014946.3:c.1299T>G , LRG_714t1:c.1299T>G	NP_055761.2:p.Leu433=
NM_199436.1:c.1203T>G	NP_955468.1:p.Leu401=
XM_005264516.3:c.1296T>G	XP_005264573.1:p.Leu432=
XM_011533067.1:c.1299T>G	XP_011531369.1:p.Leu433=
NM_001363823.1:c.1296T>G	NP_001350752.1:p.Leu432=
NM_001363875.1:c.1200T>G	NP_001350804.1:p.Leu400=
XM_005264516.5:c.1296T>G	XP_005264573.1:p.Leu432=
XM_011533067.2:c.1299T>G	XP_011531369.1:p.Leu433=
XM_017004778.2:c.1203T>G	XP_016860267.1:p.Leu401=
NM_001363823.2:c.1296T>G	NP_001350752.1:p.Leu432=
NM_001363875.2:c.1200T>G	NP_001350804.1:p.Leu400=
NM_001377959.1:c.1203T>G	NP_001364888.1:p.Leu401=
NM_014946.4:c.1299T>G MANE Select	NP_055761.2:p.Leu433=
NM_199436.2:c.1203T>G	NP_955468.1:p.Leu401=