Canonical Allele Identifier: CA346502296

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1298800
• ClinVar RCV Id: RCV001727130
• dbSNP Id: rs1553318242
• MyVariant Identifiers: chr2:g.32362006T>C (hg19) ; chr2:g.32136937T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136937T>C , CM000664.2:g.32136937T>C	GRCh38
NC_000002.11:g.32362006T>C , CM000664.1:g.32362006T>C	GRCh37
NC_000002.10:g.32215510T>C	NCBI36
NG_008730.1:g.78327T>C , LRG_714:g.78327T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1042T>C	ENSP00000515816.1:n.*1042T>C
ENST00000315285.9:c.1382T>C MANE Select	ENSP00000320885.3:p.Leu461Pro
ENST00000621856.2:c.1379T>C	ENSP00000482496.2:p.Leu460Pro
ENST00000642281.1:c.1119T>C
ENST00000642455.1:c.1283T>C	ENSP00000493827.1:p.Leu428Pro
ENST00000642751.1:c.1156T>C
ENST00000642999.1:c.1124T>C	ENSP00000496589.1:p.Leu375Pro
ENST00000643327.1:c.481-172T>C
ENST00000643334.1:c.962T>C
ENST00000644408.1:c.1258T>C
ENST00000644954.1:c.1028T>C	ENSP00000494312.1:p.Leu343Pro
ENST00000645159.1:n.2119T>C
ENST00000645671.1:c.832T>C
ENST00000645730.1:c.593-172T>C
ENST00000646082.1:c.1028T>C
ENST00000646571.1:c.1286T>C	ENSP00000495015.1:p.Leu429Pro
ENST00000647007.1:n.1074T>C
ENST00000647133.1:c.882T>C
ENST00000315285.7:c.1382T>C	ENSP00000320885.3:p.Leu461Pro
ENST00000345662.5:c.1286T>C	ENSP00000340817.1:p.Leu429Pro
ENST00000615843.4:c.1382T>C	ENSP00000480893.1:p.Leu461Pro
ENST00000621856.1:c.1124T>C	ENSP00000482496.1:p.Leu375Pro
NM_014946.3:c.1382T>C , LRG_714t1:c.1382T>C	NP_055761.2:p.Leu461Pro
NM_199436.1:c.1286T>C	NP_955468.1:p.Leu429Pro
XM_005264516.3:c.1379T>C	XP_005264573.1:p.Leu460Pro
XM_011533067.1:c.1382T>C	XP_011531369.1:p.Leu461Pro
NM_001363823.1:c.1379T>C	NP_001350752.1:p.Leu460Pro
NM_001363875.1:c.1283T>C	NP_001350804.1:p.Leu428Pro
XM_005264516.5:c.1379T>C	XP_005264573.1:p.Leu460Pro
XM_011533067.2:c.1382T>C	XP_011531369.1:p.Leu461Pro
XM_017004778.2:c.1286T>C	XP_016860267.1:p.Leu429Pro
NM_001363823.2:c.1379T>C	NP_001350752.1:p.Leu460Pro
NM_001363875.2:c.1283T>C	NP_001350804.1:p.Leu428Pro
NM_001377959.1:c.1286T>C	NP_001364888.1:p.Leu429Pro
NM_014946.4:c.1382T>C MANE Select	NP_055761.2:p.Leu461Pro
NM_199436.2:c.1286T>C	NP_955468.1:p.Leu429Pro