Canonical Allele Identifier: CA1242498052

Gene: SPAST

Linked Data

• dbSNP Id: rs2294176
• gnomAD v4: 2-32128247-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128247G>C , CM000664.2:g.32128247G>C	GRCh38
NC_000002.11:g.32353316G>C , CM000664.1:g.32353316G>C	GRCh37
NC_000002.10:g.32206820G>C	NCBI36
NG_008730.1:g.69637G>C , LRG_714:g.69637G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*834-161G>C	ENSP00000515816.1:n.*834-161G>C
ENST00000315285.9:c.1174-161G>C MANE Select	ENSP00000320885.3:n.1174-161G>C
ENST00000621856.2:c.1171-161G>C	ENSP00000482496.2:n.1171-161G>C
ENST00000642281.1:c.983-8316G>C
ENST00000642455.1:c.1075-161G>C	ENSP00000493827.1:n.1075-161G>C
ENST00000642751.1:c.948-161G>C
ENST00000642999.1:c.916-161G>C	ENSP00000496589.1:n.916-161G>C
ENST00000643327.1:c.333-161G>C
ENST00000643334.1:c.754-161G>C
ENST00000644408.1:c.1050-161G>C
ENST00000644954.1:c.820-161G>C	ENSP00000494312.1:n.820-161G>C
ENST00000645159.1:n.1750G>C
ENST00000645550.1:n.387-161G>C
ENST00000645671.1:c.624-161G>C
ENST00000645730.1:c.521-161G>C
ENST00000646082.1:c.820-161G>C
ENST00000646571.1:c.1078-161G>C	ENSP00000495015.1:n.1078-161G>C
ENST00000647007.1:n.866-161G>C
ENST00000647133.1:c.674-161G>C
ENST00000315285.7:c.1174-161G>C	ENSP00000320885.3:n.1174-161G>C
ENST00000345662.5:c.1078-161G>C	ENSP00000340817.1:n.1078-161G>C
ENST00000615843.4:c.1174-161G>C	ENSP00000480893.1:n.1174-161G>C
ENST00000621856.1:c.916-161G>C	ENSP00000482496.1:n.916-161G>C
NM_014946.3:c.1174-161G>C , LRG_714t1:c.1174-161G>C	NP_055761.2:n.1174-161G>C
NM_199436.1:c.1078-161G>C	NP_955468.1:n.1078-161G>C
XM_005264516.3:c.1171-161G>C	XP_005264573.1:n.1171-161G>C
XM_011533067.1:c.1174-161G>C	XP_011531369.1:n.1174-161G>C
NM_001363823.1:c.1171-161G>C	NP_001350752.1:n.1171-161G>C
NM_001363875.1:c.1075-161G>C	NP_001350804.1:n.1075-161G>C
XM_005264516.5:c.1171-161G>C	XP_005264573.1:n.1171-161G>C
XM_011533067.2:c.1174-161G>C	XP_011531369.1:n.1174-161G>C
XM_017004778.2:c.1078-161G>C	XP_016860267.1:n.1078-161G>C
NM_001363823.2:c.1171-161G>C	NP_001350752.1:n.1171-161G>C
NM_001363875.2:c.1075-161G>C	NP_001350804.1:n.1075-161G>C
NM_001377959.1:c.1078-161G>C	NP_001364888.1:n.1078-161G>C
NM_014946.4:c.1174-161G>C MANE Select	NP_055761.2:n.1174-161G>C
NM_199436.2:c.1078-161G>C	NP_955468.1:n.1078-161G>C