Canonical Allele Identifier: CA346502095

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32361686C>A (hg19) ; chr2:g.32136617C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136617C>A , CM000664.2:g.32136617C>A	GRCh38
NC_000002.11:g.32361686C>A , CM000664.1:g.32361686C>A	GRCh37
NC_000002.10:g.32215190C>A	NCBI36
NG_008730.1:g.78007C>A , LRG_714:g.78007C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*960C>A	ENSP00000515816.1:n.*960C>A
ENST00000315285.9:c.1300C>A MANE Select	ENSP00000320885.3:p.Gln434Lys
ENST00000621856.2:c.1297C>A	ENSP00000482496.2:p.Gln433Lys
ENST00000642281.1:c.1037C>A
ENST00000642455.1:c.1201C>A	ENSP00000493827.1:p.Gln401Lys
ENST00000642751.1:c.1074C>A
ENST00000642999.1:c.1042C>A	ENSP00000496589.1:p.Gln348Lys
ENST00000643327.1:c.459C>A
ENST00000643334.1:c.880C>A
ENST00000644408.1:c.1176C>A
ENST00000644954.1:c.946C>A	ENSP00000494312.1:p.Gln316Lys
ENST00000645159.1:n.2037C>A
ENST00000645671.1:c.750C>A
ENST00000645730.1:c.593-492C>A
ENST00000646082.1:c.946C>A
ENST00000646571.1:c.1204C>A	ENSP00000495015.1:p.Gln402Lys
ENST00000647007.1:n.992C>A
ENST00000647133.1:c.800C>A
ENST00000315285.7:c.1300C>A	ENSP00000320885.3:p.Gln434Lys
ENST00000345662.5:c.1204C>A	ENSP00000340817.1:p.Gln402Lys
ENST00000615843.4:c.1300C>A	ENSP00000480893.1:p.Gln434Lys
ENST00000621856.1:c.1042C>A	ENSP00000482496.1:p.Gln348Lys
NM_014946.3:c.1300C>A , LRG_714t1:c.1300C>A	NP_055761.2:p.Gln434Lys
NM_199436.1:c.1204C>A	NP_955468.1:p.Gln402Lys
XM_005264516.3:c.1297C>A	XP_005264573.1:p.Gln433Lys
XM_011533067.1:c.1300C>A	XP_011531369.1:p.Gln434Lys
NM_001363823.1:c.1297C>A	NP_001350752.1:p.Gln433Lys
NM_001363875.1:c.1201C>A	NP_001350804.1:p.Gln401Lys
XM_005264516.5:c.1297C>A	XP_005264573.1:p.Gln433Lys
XM_011533067.2:c.1300C>A	XP_011531369.1:p.Gln434Lys
XM_017004778.2:c.1204C>A	XP_016860267.1:p.Gln402Lys
NM_001363823.2:c.1297C>A	NP_001350752.1:p.Gln433Lys
NM_001363875.2:c.1201C>A	NP_001350804.1:p.Gln401Lys
NM_001377959.1:c.1204C>A	NP_001364888.1:p.Gln402Lys
NM_014946.4:c.1300C>A MANE Select	NP_055761.2:p.Gln434Lys
NM_199436.2:c.1204C>A	NP_955468.1:p.Gln402Lys