Canonical Allele Identifier: CA346498942

Gene: SPAST

Linked Data

• ClinVar Variation Id: 523508
• ClinVar RCV Id: RCV000626923 ; RCV000688305
• dbSNP Id: rs1553314978
• MyVariant Identifiers: chr2:g.32339895G>A (hg19) ; chr2:g.32114826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32114826G>A , CM000664.2:g.32114826G>A	GRCh38
NC_000002.11:g.32339895G>A , CM000664.1:g.32339895G>A	GRCh37
NC_000002.10:g.32193399G>A	NCBI36
NG_008730.1:g.56216G>A , LRG_714:g.56216G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*530+1G>A	ENSP00000515816.1:n.*530+1G>A
ENST00000315285.9:c.870+1G>A MANE Select	ENSP00000320885.3:n.870+1G>A
ENST00000621856.2:c.867+1G>A	ENSP00000482496.2:n.867+1G>A
ENST00000642281.1:c.754+1G>A
ENST00000642455.1:c.771+1G>A	ENSP00000493827.1:n.771+1G>A
ENST00000642751.1:c.644+1G>A
ENST00000642999.1:c.612+1G>A	ENSP00000496589.1:n.612+1G>A
ENST00000643327.1:c.29+1G>A
ENST00000643334.1:c.450+1G>A
ENST00000644408.1:c.746+1G>A
ENST00000644954.1:c.516+1G>A	ENSP00000494312.1:n.516+1G>A
ENST00000645671.1:c.320+1G>A
ENST00000645730.1:c.217+1G>A
ENST00000646082.1:c.517-876G>A
ENST00000646571.1:c.774+1G>A	ENSP00000495015.1:n.774+1G>A
ENST00000647007.1:n.562+1G>A
ENST00000647133.1:c.445+1G>A
ENST00000315285.7:c.870+1G>A	ENSP00000320885.3:n.870+1G>A
ENST00000345662.5:c.774+1G>A	ENSP00000340817.1:n.774+1G>A
ENST00000615843.4:c.870+1G>A	ENSP00000480893.1:n.870+1G>A
ENST00000621856.1:c.612+1G>A	ENSP00000482496.1:n.612+1G>A
NM_014946.3:c.870+1G>A , LRG_714t1:c.870+1G>A	NP_055761.2:n.870+1G>A
NM_199436.1:c.774+1G>A	NP_955468.1:n.774+1G>A
XM_005264516.3:c.867+1G>A	XP_005264573.1:n.867+1G>A
XM_011533067.1:c.870+1G>A	XP_011531369.1:n.870+1G>A
NM_001363823.1:c.867+1G>A	NP_001350752.1:n.867+1G>A
NM_001363875.1:c.771+1G>A	NP_001350804.1:n.771+1G>A
XM_005264516.5:c.867+1G>A	XP_005264573.1:n.867+1G>A
XM_011533067.2:c.870+1G>A	XP_011531369.1:n.870+1G>A
XM_017004778.2:c.774+1G>A	XP_016860267.1:n.774+1G>A
NM_001363823.2:c.867+1G>A	NP_001350752.1:n.867+1G>A
NM_001363875.2:c.771+1G>A	NP_001350804.1:n.771+1G>A
NM_001377959.1:c.774+1G>A	NP_001364888.1:n.774+1G>A
NM_014946.4:c.870+1G>A MANE Select	NP_055761.2:n.870+1G>A
NM_199436.2:c.774+1G>A	NP_955468.1:n.774+1G>A