Canonical Allele Identifier: CA2658527504

Gene: SPAST

Linked Data

• gnomAD v4: 2-32128496-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128496C>T , CM000664.2:g.32128496C>T	GRCh38
NC_000002.11:g.32353565C>T , CM000664.1:g.32353565C>T	GRCh37
NC_000002.10:g.32207069C>T	NCBI36
NG_008730.1:g.69886C>T , LRG_714:g.69886C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*905+17C>T	ENSP00000515816.1:n.*905+17C>T
ENST00000315285.9:c.1245+17C>T MANE Select	ENSP00000320885.3:n.1245+17C>T
ENST00000621856.2:c.1242+17C>T	ENSP00000482496.2:n.1242+17C>T
ENST00000642281.1:c.983-8067C>T
ENST00000642455.1:c.1146+17C>T	ENSP00000493827.1:n.1146+17C>T
ENST00000642751.1:c.1019+17C>T
ENST00000642999.1:c.987+17C>T	ENSP00000496589.1:n.987+17C>T
ENST00000643327.1:c.404+17C>T
ENST00000643334.1:c.825+17C>T
ENST00000644408.1:c.1121+17C>T
ENST00000644954.1:c.891+17C>T	ENSP00000494312.1:n.891+17C>T
ENST00000645159.1:n.1982+17C>T
ENST00000645550.1:n.475C>T
ENST00000645671.1:c.695+17C>T
ENST00000645730.1:c.592+17C>T
ENST00000646082.1:c.891+17C>T
ENST00000646571.1:c.1149+17C>T	ENSP00000495015.1:n.1149+17C>T
ENST00000647007.1:n.937+17C>T
ENST00000647133.1:c.745+17C>T
ENST00000315285.7:c.1245+17C>T	ENSP00000320885.3:n.1245+17C>T
ENST00000345662.5:c.1149+17C>T	ENSP00000340817.1:n.1149+17C>T
ENST00000615843.4:c.1245+17C>T	ENSP00000480893.1:n.1245+17C>T
ENST00000621856.1:c.987+17C>T	ENSP00000482496.1:n.987+17C>T
NM_014946.3:c.1245+17C>T , LRG_714t1:c.1245+17C>T	NP_055761.2:n.1245+17C>T
NM_199436.1:c.1149+17C>T	NP_955468.1:n.1149+17C>T
XM_005264516.3:c.1242+17C>T	XP_005264573.1:n.1242+17C>T
XM_011533067.1:c.1245+17C>T	XP_011531369.1:n.1245+17C>T
NM_001363823.1:c.1242+17C>T	NP_001350752.1:n.1242+17C>T
NM_001363875.1:c.1146+17C>T	NP_001350804.1:n.1146+17C>T
XM_005264516.5:c.1242+17C>T	XP_005264573.1:n.1242+17C>T
XM_011533067.2:c.1245+17C>T	XP_011531369.1:n.1245+17C>T
XM_017004778.2:c.1149+17C>T	XP_016860267.1:n.1149+17C>T
NM_001363823.2:c.1242+17C>T	NP_001350752.1:n.1242+17C>T
NM_001363875.2:c.1146+17C>T	NP_001350804.1:n.1146+17C>T
NM_001377959.1:c.1149+17C>T	NP_001364888.1:n.1149+17C>T
NM_014946.4:c.1245+17C>T MANE Select	NP_055761.2:n.1245+17C>T
NM_199436.2:c.1149+17C>T	NP_955468.1:n.1149+17C>T