Canonical Allele Identifier: CA425581452

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32314671C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32089602C>T , CM000664.2:g.32089602C>T	GRCh38
NC_000002.11:g.32314671C>T , CM000664.1:g.32314671C>T	GRCh37
NC_000002.10:g.32168175C>T	NCBI36
NG_008730.1:g.30992C>T , LRG_714:g.30992C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*243C>T	ENSP00000515816.1:n.*243C>T
ENST00000315285.9:c.583C>T MANE Select	ENSP00000320885.3:p.Leu195=
ENST00000621856.2:c.580C>T	ENSP00000482496.2:p.Leu194=
ENST00000642281.1:c.467C>T
ENST00000642455.1:c.580C>T	ENSP00000493827.1:p.Leu194=
ENST00000642751.1:c.453C>T
ENST00000642999.1:c.325C>T	ENSP00000496589.1:p.Leu109=
ENST00000643334.1:c.168C>T
ENST00000644408.1:c.459C>T
ENST00000644954.1:c.325C>T	ENSP00000494312.1:p.Leu109=
ENST00000645400.1:c.539C>T	ENSP00000496306.1:n.539C>T
ENST00000645671.1:c.37-9194C>T
ENST00000646082.1:c.417C>T
ENST00000646571.1:c.583C>T	ENSP00000495015.1:p.Leu195=
ENST00000647007.1:n.280C>T
ENST00000647133.1:c.158C>T
ENST00000315285.7:c.583C>T	ENSP00000320885.3:p.Leu195=
ENST00000345662.5:c.583C>T	ENSP00000340817.1:p.Leu195=
ENST00000615843.4:c.583C>T	ENSP00000480893.1:p.Leu195=
ENST00000621856.1:c.325C>T	ENSP00000482496.1:p.Leu109=
NM_014946.3:c.583C>T , LRG_714t1:c.583C>T	NP_055761.2:p.Leu195=
NM_199436.1:c.583C>T	NP_955468.1:p.Leu195=
XM_005264516.3:c.580C>T	XP_005264573.1:p.Leu194=
XM_011533067.1:c.583C>T	XP_011531369.1:p.Leu195=
NM_001363823.1:c.580C>T	NP_001350752.1:p.Leu194=
NM_001363875.1:c.580C>T	NP_001350804.1:p.Leu194=
XM_005264516.5:c.580C>T	XP_005264573.1:p.Leu194=
XM_011533067.2:c.583C>T	XP_011531369.1:p.Leu195=
XM_017004778.2:c.583C>T	XP_016860267.1:p.Leu195=
NM_001363823.2:c.580C>T	NP_001350752.1:p.Leu194=
NM_001363875.2:c.580C>T	NP_001350804.1:p.Leu194=
NM_001377959.1:c.583C>T	NP_001364888.1:p.Leu195=
NM_014946.4:c.583C>T MANE Select	NP_055761.2:p.Leu195=
NM_199436.2:c.583C>T	NP_955468.1:p.Leu195=