Canonical Allele Identifier: CA346502813

Gene: SPAST

Linked Data

• ClinVar Variation Id: 468567
• ClinVar RCV Id: RCV000532382
• dbSNP Id: rs1315245986
• MyVariant Identifiers: chr2:g.32366972G>C (hg19) ; chr2:g.32141903G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32141903G>C , CM000664.2:g.32141903G>C	GRCh38
NC_000002.11:g.32366972G>C , CM000664.1:g.32366972G>C	GRCh37
NC_000002.10:g.32220476G>C	NCBI36
NG_008730.1:g.83293G>C , LRG_714:g.83293G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1154-1G>C	ENSP00000515816.1:n.*1154-1G>C
ENST00000315285.9:c.1494-1G>C MANE Select	ENSP00000320885.3:n.1494-1G>C
ENST00000621856.2:c.1491-1G>C	ENSP00000482496.2:n.1491-1G>C
ENST00000642281.1:c.1231-1G>C
ENST00000642455.1:c.1395-1G>C	ENSP00000493827.1:n.1395-1G>C
ENST00000642751.1:c.1268-1G>C
ENST00000642999.1:c.1236-1G>C	ENSP00000496589.1:n.1236-1G>C
ENST00000643327.1:c.561-1G>C
ENST00000643334.1:c.1074-1G>C
ENST00000644408.1:c.1370-1G>C
ENST00000644954.1:c.1140-1G>C	ENSP00000494312.1:n.1140-1G>C
ENST00000645159.1:n.2231-1G>C
ENST00000645671.1:c.944-1G>C
ENST00000645730.1:c.673-1G>C
ENST00000646082.1:c.1140-1G>C
ENST00000646571.1:c.1398-1G>C	ENSP00000495015.1:n.1398-1G>C
ENST00000647007.1:n.1186-1G>C
ENST00000647133.1:c.994-1G>C
ENST00000315285.7:c.1494-1G>C	ENSP00000320885.3:n.1494-1G>C
ENST00000345662.5:c.1398-1G>C	ENSP00000340817.1:n.1398-1G>C
ENST00000615843.4:c.1494-1G>C	ENSP00000480893.1:n.1494-1G>C
ENST00000621856.1:c.1236-1G>C	ENSP00000482496.1:n.1236-1G>C
NM_014946.3:c.1494-1G>C , LRG_714t1:c.1494-1G>C	NP_055761.2:n.1494-1G>C
NM_199436.1:c.1398-1G>C	NP_955468.1:n.1398-1G>C
XM_005264516.3:c.1491-1G>C	XP_005264573.1:n.1491-1G>C
XM_011533067.1:c.1494-1G>C	XP_011531369.1:n.1494-1G>C
NM_001363823.1:c.1491-1G>C	NP_001350752.1:n.1491-1G>C
NM_001363875.1:c.1395-1G>C	NP_001350804.1:n.1395-1G>C
XM_005264516.5:c.1491-1G>C	XP_005264573.1:n.1491-1G>C
XM_011533067.2:c.1494-1G>C	XP_011531369.1:n.1494-1G>C
XM_017004778.2:c.1398-1G>C	XP_016860267.1:n.1398-1G>C
NM_001363823.2:c.1491-1G>C	NP_001350752.1:n.1491-1G>C
NM_001363875.2:c.1395-1G>C	NP_001350804.1:n.1395-1G>C
NM_001377959.1:c.1398-1G>C	NP_001364888.1:n.1398-1G>C
NM_014946.4:c.1494-1G>C MANE Select	NP_055761.2:n.1494-1G>C
NM_199436.2:c.1398-1G>C	NP_955468.1:n.1398-1G>C