Canonical Allele Identifier: CA346499381

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32115837T>G , CM000664.2:g.32115837T>G	GRCh38
NC_000002.11:g.32340906T>G , CM000664.1:g.32340906T>G	GRCh37
NC_000002.10:g.32194410T>G	NCBI36
NG_008730.1:g.57227T>G , LRG_714:g.57227T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1004+2T>G MANE Select	NP_055761.2:n.1004+2T>G
ENST00000315285.9:c.1004+2T>G MANE Select	ENSP00000320885.3:n.1004+2T>G
NM_001363823.1:c.1001+2T>G	NP_001350752.1:n.1001+2T>G
NM_001363823.2:c.1001+2T>G	NP_001350752.1:n.1001+2T>G
NM_001363875.1:c.905+2T>G	NP_001350804.1:n.905+2T>G
NM_001363875.2:c.905+2T>G	NP_001350804.1:n.905+2T>G
NM_001377959.1:c.908+2T>G	NP_001364888.1:n.908+2T>G
NM_014946.3:c.1004+2T>G , LRG_714t1:c.1004+2T>G	NP_055761.2:n.1004+2T>G
NM_199436.1:c.908+2T>G	NP_955468.1:n.908+2T>G
NM_199436.2:c.908+2T>G	NP_955468.1:n.908+2T>G
ENST00000315285.7:c.1004+2T>G	ENSP00000320885.3:n.1004+2T>G
ENST00000345662.5:c.908+2T>G	ENSP00000340817.1:n.908+2T>G
ENST00000615843.4:c.1004+2T>G	ENSP00000480893.1:n.1004+2T>G
ENST00000621856.1:c.746+2T>G	ENSP00000482496.1:n.746+2T>G
ENST00000621856.2:c.1001+2T>G	ENSP00000482496.2:n.1001+2T>G
ENST00000642281.1:c.888+2T>G
ENST00000642455.1:c.905+2T>G	ENSP00000493827.1:n.905+2T>G
ENST00000642751.1:c.778+2T>G
ENST00000642999.1:c.746+2T>G	ENSP00000496589.1:n.746+2T>G
ENST00000643327.1:c.163+2T>G
ENST00000643334.1:c.584+2T>G
ENST00000644408.1:c.880+2T>G
ENST00000644954.1:c.650+2T>G	ENSP00000494312.1:n.650+2T>G
ENST00000645671.1:c.454+2T>G
ENST00000645730.1:c.351+2T>G
ENST00000646082.1:c.650+2T>G
ENST00000646571.1:c.908+2T>G	ENSP00000495015.1:n.908+2T>G
ENST00000647007.1:n.696+2T>G
ENST00000647133.1:c.579+2T>G
ENST00000704289.1:c.*664+2T>G	ENSP00000515816.1:n.*664+2T>G
XM_005264516.3:c.1001+2T>G	XP_005264573.1:n.1001+2T>G
XM_005264516.5:c.1001+2T>G	XP_005264573.1:n.1001+2T>G
XM_011533067.1:c.1004+2T>G	XP_011531369.1:n.1004+2T>G
XM_011533067.2:c.1004+2T>G	XP_011531369.1:n.1004+2T>G
XM_017004778.2:c.908+2T>G	XP_016860267.1:n.908+2T>G