Canonical Allele Identifier: CA346603424

Gene: SPAST

Linked Data

• gnomAD v4: 2-32089524-G-A
• MyVariant Identifiers: chr2:g.32314593G>A (hg19) ; chr2:g.32089524G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32089524G>A , CM000664.2:g.32089524G>A	GRCh38
NC_000002.11:g.32314593G>A , CM000664.1:g.32314593G>A	GRCh37
NC_000002.10:g.32168097G>A	NCBI36
NG_008730.1:g.30914G>A , LRG_714:g.30914G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*165G>A	ENSP00000515816.1:n.*165G>A
ENST00000315285.9:c.505G>A MANE Select	ENSP00000320885.3:p.Glu169Lys
ENST00000621856.2:c.502G>A	ENSP00000482496.2:p.Glu168Lys
ENST00000642281.1:c.389G>A
ENST00000642455.1:c.502G>A	ENSP00000493827.1:p.Glu168Lys
ENST00000642751.1:c.375G>A
ENST00000642999.1:c.247G>A	ENSP00000496589.1:p.Glu83Lys
ENST00000643334.1:c.90G>A
ENST00000644408.1:c.381G>A
ENST00000644954.1:c.247G>A	ENSP00000494312.1:p.Glu83Lys
ENST00000645400.1:c.461G>A	ENSP00000496306.1:n.461G>A
ENST00000645671.1:c.37-9272G>A
ENST00000646082.1:c.339G>A
ENST00000646571.1:c.505G>A	ENSP00000495015.1:p.Glu169Lys
ENST00000647007.1:n.202G>A
ENST00000647133.1:c.80G>A
ENST00000315285.7:c.505G>A	ENSP00000320885.3:p.Glu169Lys
ENST00000345662.5:c.505G>A	ENSP00000340817.1:p.Glu169Lys
ENST00000615843.4:c.505G>A	ENSP00000480893.1:p.Glu169Lys
ENST00000621856.1:c.247G>A	ENSP00000482496.1:p.Glu83Lys
NM_014946.3:c.505G>A , LRG_714t1:c.505G>A	NP_055761.2:p.Glu169Lys
NM_199436.1:c.505G>A	NP_955468.1:p.Glu169Lys
XM_005264516.3:c.502G>A	XP_005264573.1:p.Glu168Lys
XM_011533067.1:c.505G>A	XP_011531369.1:p.Glu169Lys
NM_001363823.1:c.502G>A	NP_001350752.1:p.Glu168Lys
NM_001363875.1:c.502G>A	NP_001350804.1:p.Glu168Lys
XM_005264516.5:c.502G>A	XP_005264573.1:p.Glu168Lys
XM_011533067.2:c.505G>A	XP_011531369.1:p.Glu169Lys
XM_017004778.2:c.505G>A	XP_016860267.1:p.Glu169Lys
NM_001363823.2:c.502G>A	NP_001350752.1:p.Glu168Lys
NM_001363875.2:c.502G>A	NP_001350804.1:p.Glu168Lys
NM_001377959.1:c.505G>A	NP_001364888.1:p.Glu169Lys
NM_014946.4:c.505G>A MANE Select	NP_055761.2:p.Glu169Lys
NM_199436.2:c.505G>A	NP_955468.1:p.Glu169Lys