Canonical Allele Identifier: CA1600842

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1555554
• ClinVar RCV Id: RCV002202034
• dbSNP Id: rs766012036
• ExAC: 2:32353560 G / A
• gnomAD v2: 2-32353560-G-A
• gnomAD v3: 2-32128491-G-A
• gnomAD v4: 2-32128491-G-A
• MyVariant Identifiers: chr2:g.32353560G>A (hg19) ; chr2:g.32353560_32353561delinsAT (hg19) ; chr2:g.32128491G>A (hg38) ; chr2:g.32128491_32128492delinsAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128491G>A , CM000664.2:g.32128491G>A	GRCh38
NC_000002.11:g.32353560G>A , CM000664.1:g.32353560G>A	GRCh37
NC_000002.10:g.32207064G>A	NCBI36
NG_008730.1:g.69881G>A , LRG_714:g.69881G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*905+12G>A	ENSP00000515816.1:n.*905+12G>A
ENST00000315285.9:c.1245+12G>A MANE Select	ENSP00000320885.3:n.1245+12G>A
ENST00000621856.2:c.1242+12G>A	ENSP00000482496.2:n.1242+12G>A
ENST00000642281.1:c.983-8072G>A
ENST00000642455.1:c.1146+12G>A	ENSP00000493827.1:n.1146+12G>A
ENST00000642751.1:c.1019+12G>A
ENST00000642999.1:c.987+12G>A	ENSP00000496589.1:n.987+12G>A
ENST00000643327.1:c.404+12G>A
ENST00000643334.1:c.825+12G>A
ENST00000644408.1:c.1121+12G>A
ENST00000644954.1:c.891+12G>A	ENSP00000494312.1:n.891+12G>A
ENST00000645159.1:n.1982+12G>A
ENST00000645550.1:n.470G>A
ENST00000645671.1:c.695+12G>A
ENST00000645730.1:c.592+12G>A
ENST00000646082.1:c.891+12G>A
ENST00000646571.1:c.1149+12G>A	ENSP00000495015.1:n.1149+12G>A
ENST00000647007.1:n.937+12G>A
ENST00000647133.1:c.745+12G>A
ENST00000315285.7:c.1245+12G>A	ENSP00000320885.3:n.1245+12G>A
ENST00000345662.5:c.1149+12G>A	ENSP00000340817.1:n.1149+12G>A
ENST00000615843.4:c.1245+12G>A	ENSP00000480893.1:n.1245+12G>A
ENST00000621856.1:c.987+12G>A	ENSP00000482496.1:n.987+12G>A
NM_014946.3:c.1245+12G>A , LRG_714t1:c.1245+12G>A	NP_055761.2:n.1245+12G>A
NM_199436.1:c.1149+12G>A	NP_955468.1:n.1149+12G>A
XM_005264516.3:c.1242+12G>A	XP_005264573.1:n.1242+12G>A
XM_011533067.1:c.1245+12G>A	XP_011531369.1:n.1245+12G>A
NM_001363823.1:c.1242+12G>A	NP_001350752.1:n.1242+12G>A
NM_001363875.1:c.1146+12G>A	NP_001350804.1:n.1146+12G>A
XM_005264516.5:c.1242+12G>A	XP_005264573.1:n.1242+12G>A
XM_011533067.2:c.1245+12G>A	XP_011531369.1:n.1245+12G>A
XM_017004778.2:c.1149+12G>A	XP_016860267.1:n.1149+12G>A
NM_001363823.2:c.1242+12G>A	NP_001350752.1:n.1242+12G>A
NM_001363875.2:c.1146+12G>A	NP_001350804.1:n.1146+12G>A
NM_001377959.1:c.1149+12G>A	NP_001364888.1:n.1149+12G>A
NM_014946.4:c.1245+12G>A MANE Select	NP_055761.2:n.1245+12G>A
NM_199436.2:c.1149+12G>A	NP_955468.1:n.1149+12G>A