Canonical Allele Identifier: CA16609412

Gene: SPAST

Linked Data

• ClinVar Variation Id: 397539
• ClinVar RCV Id: RCV000449607 ; RCV001848797
• dbSNP Id: rs1060499670
• MyVariant Identifiers: chr2:g.32352029C>T (hg19) ; chr2:g.32126960C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126960C>T , CM000664.2:g.32126960C>T	GRCh38
NC_000002.11:g.32352029C>T , CM000664.1:g.32352029C>T	GRCh37
NC_000002.10:g.32205533C>T	NCBI36
NG_008730.1:g.68350C>T , LRG_714:g.68350C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*771C>T	ENSP00000515816.1:n.*771C>T
ENST00000315285.9:c.1111C>T MANE Select	ENSP00000320885.3:p.Leu371Phe
ENST00000621856.2:c.1108C>T	ENSP00000482496.2:p.Leu370Phe
ENST00000642281.1:c.983-9603C>T
ENST00000642455.1:c.1012C>T	ENSP00000493827.1:p.Leu338Phe
ENST00000642751.1:c.885C>T
ENST00000642999.1:c.853C>T	ENSP00000496589.1:p.Leu285Phe
ENST00000643327.1:c.270C>T
ENST00000643334.1:c.691C>T
ENST00000644408.1:c.987C>T
ENST00000644954.1:c.757C>T	ENSP00000494312.1:p.Leu253Phe
ENST00000645159.1:n.463C>T
ENST00000645550.1:n.324C>T
ENST00000645671.1:c.561C>T
ENST00000645730.1:c.458C>T
ENST00000646082.1:c.757C>T
ENST00000646571.1:c.1015C>T	ENSP00000495015.1:p.Leu339Phe
ENST00000647007.1:n.803C>T
ENST00000647133.1:c.674-1448C>T
ENST00000315285.7:c.1111C>T	ENSP00000320885.3:p.Leu371Phe
ENST00000345662.5:c.1015C>T	ENSP00000340817.1:p.Leu339Phe
ENST00000615843.4:c.1111C>T	ENSP00000480893.1:p.Leu371Phe
ENST00000621856.1:c.853C>T	ENSP00000482496.1:p.Leu285Phe
NM_014946.3:c.1111C>T , LRG_714t1:c.1111C>T	NP_055761.2:p.Leu371Phe
NM_199436.1:c.1015C>T	NP_955468.1:p.Leu339Phe
XM_005264516.3:c.1108C>T	XP_005264573.1:p.Leu370Phe
XM_011533067.1:c.1111C>T	XP_011531369.1:p.Leu371Phe
NM_001363823.1:c.1108C>T	NP_001350752.1:p.Leu370Phe
NM_001363875.1:c.1012C>T	NP_001350804.1:p.Leu338Phe
XM_005264516.5:c.1108C>T	XP_005264573.1:p.Leu370Phe
XM_011533067.2:c.1111C>T	XP_011531369.1:p.Leu371Phe
XM_017004778.2:c.1015C>T	XP_016860267.1:p.Leu339Phe
NM_001363823.2:c.1108C>T	NP_001350752.1:p.Leu370Phe
NM_001363875.2:c.1012C>T	NP_001350804.1:p.Leu338Phe
NM_001377959.1:c.1015C>T	NP_001364888.1:p.Leu339Phe
NM_014946.4:c.1111C>T MANE Select	NP_055761.2:p.Leu371Phe
NM_199436.2:c.1015C>T	NP_955468.1:p.Leu339Phe