Canonical Allele Identifier: CA44741609

Gene: SPAST

Linked Data

• dbSNP Id: rs62142114
• MyVariant Identifiers: chr2:g.32352043C>A (hg19) ; chr2:g.32126974C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126974C>A , CM000664.2:g.32126974C>A	GRCh38
NC_000002.11:g.32352043C>A , CM000664.1:g.32352043C>A	GRCh37
NC_000002.10:g.32205547C>A	NCBI36
NG_008730.1:g.68364C>A , LRG_714:g.68364C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*785C>A	ENSP00000515816.1:n.*785C>A
ENST00000315285.9:c.1125C>A MANE Select	ENSP00000320885.3:p.Ala375=
ENST00000621856.2:c.1122C>A	ENSP00000482496.2:p.Ala374=
ENST00000642281.1:c.983-9589C>A
ENST00000642455.1:c.1026C>A	ENSP00000493827.1:p.Ala342=
ENST00000642751.1:c.899C>A
ENST00000642999.1:c.867C>A	ENSP00000496589.1:p.Ala289=
ENST00000643327.1:c.284C>A
ENST00000643334.1:c.705C>A
ENST00000644408.1:c.1001C>A
ENST00000644954.1:c.771C>A	ENSP00000494312.1:p.Ala257=
ENST00000645159.1:n.477C>A
ENST00000645550.1:n.338C>A
ENST00000645671.1:c.575C>A
ENST00000645730.1:c.472C>A
ENST00000646082.1:c.771C>A
ENST00000646571.1:c.1029C>A	ENSP00000495015.1:p.Ala343=
ENST00000647007.1:n.817C>A
ENST00000647133.1:c.674-1434C>A
ENST00000315285.7:c.1125C>A	ENSP00000320885.3:p.Ala375=
ENST00000345662.5:c.1029C>A	ENSP00000340817.1:p.Ala343=
ENST00000615843.4:c.1125C>A	ENSP00000480893.1:p.Ala375=
ENST00000621856.1:c.867C>A	ENSP00000482496.1:p.Ala289=
NM_014946.3:c.1125C>A , LRG_714t1:c.1125C>A	NP_055761.2:p.Ala375=
NM_199436.1:c.1029C>A	NP_955468.1:p.Ala343=
XM_005264516.3:c.1122C>A	XP_005264573.1:p.Ala374=
XM_011533067.1:c.1125C>A	XP_011531369.1:p.Ala375=
NM_001363823.1:c.1122C>A	NP_001350752.1:p.Ala374=
NM_001363875.1:c.1026C>A	NP_001350804.1:p.Ala342=
XM_005264516.5:c.1122C>A	XP_005264573.1:p.Ala374=
XM_011533067.2:c.1125C>A	XP_011531369.1:p.Ala375=
XM_017004778.2:c.1029C>A	XP_016860267.1:p.Ala343=
NM_001363823.2:c.1122C>A	NP_001350752.1:p.Ala374=
NM_001363875.2:c.1026C>A	NP_001350804.1:p.Ala342=
NM_001377959.1:c.1029C>A	NP_001364888.1:p.Ala343=
NM_014946.4:c.1125C>A MANE Select	NP_055761.2:p.Ala375=
NM_199436.2:c.1029C>A	NP_955468.1:p.Ala343=