Canonical Allele Identifier: CA346502858

Gene: SPAST

Linked Data

• ClinVar Variation Id: 579177
• ClinVar RCV Id: RCV000702394
• dbSNP Id: rs1558339891
• MyVariant Identifiers: chr2:g.32366984A>C (hg19) ; chr2:g.32141915A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32141915A>C , CM000664.2:g.32141915A>C	GRCh38
NC_000002.11:g.32366984A>C , CM000664.1:g.32366984A>C	GRCh37
NC_000002.10:g.32220488A>C	NCBI36
NG_008730.1:g.83305A>C , LRG_714:g.83305A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1165A>C	ENSP00000515816.1:n.*1165A>C
ENST00000315285.9:c.1505A>C MANE Select	ENSP00000320885.3:p.Lys502Thr
ENST00000621856.2:c.1502A>C	ENSP00000482496.2:p.Lys501Thr
ENST00000642281.1:c.1242A>C
ENST00000642455.1:c.1406A>C	ENSP00000493827.1:p.Lys469Thr
ENST00000642751.1:c.1279A>C
ENST00000642999.1:c.1247A>C	ENSP00000496589.1:p.Lys416Thr
ENST00000643327.1:c.572A>C
ENST00000643334.1:c.1085A>C
ENST00000644408.1:c.1381A>C
ENST00000644954.1:c.1151A>C	ENSP00000494312.1:p.Lys384Thr
ENST00000645159.1:n.2242A>C
ENST00000645671.1:c.955A>C
ENST00000645730.1:c.684A>C
ENST00000646082.1:c.1151A>C
ENST00000646571.1:c.1409A>C	ENSP00000495015.1:p.Lys470Thr
ENST00000647007.1:n.1197A>C
ENST00000647133.1:c.1005A>C
ENST00000315285.7:c.1505A>C	ENSP00000320885.3:p.Lys502Thr
ENST00000345662.5:c.1409A>C	ENSP00000340817.1:p.Lys470Thr
ENST00000615843.4:c.1505A>C	ENSP00000480893.1:p.Lys502Thr
ENST00000621856.1:c.1247A>C	ENSP00000482496.1:p.Lys416Thr
NM_014946.3:c.1505A>C , LRG_714t1:c.1505A>C	NP_055761.2:p.Lys502Thr
NM_199436.1:c.1409A>C	NP_955468.1:p.Lys470Thr
XM_005264516.3:c.1502A>C	XP_005264573.1:p.Lys501Thr
XM_011533067.1:c.1505A>C	XP_011531369.1:p.Lys502Thr
NM_001363823.1:c.1502A>C	NP_001350752.1:p.Lys501Thr
NM_001363875.1:c.1406A>C	NP_001350804.1:p.Lys469Thr
XM_005264516.5:c.1502A>C	XP_005264573.1:p.Lys501Thr
XM_011533067.2:c.1505A>C	XP_011531369.1:p.Lys502Thr
XM_017004778.2:c.1409A>C	XP_016860267.1:p.Lys470Thr
NM_001363823.2:c.1502A>C	NP_001350752.1:p.Lys501Thr
NM_001363875.2:c.1406A>C	NP_001350804.1:p.Lys469Thr
NM_001377959.1:c.1409A>C	NP_001364888.1:p.Lys470Thr
NM_014946.4:c.1505A>C MANE Select	NP_055761.2:p.Lys502Thr
NM_199436.2:c.1409A>C	NP_955468.1:p.Lys470Thr