Canonical Allele Identifier: CA1242498079

Gene: SPAST

Linked Data

• dbSNP Id: rs1679260976

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128310T>C , CM000664.2:g.32128310T>C	GRCh38
NC_000002.11:g.32353379T>C , CM000664.1:g.32353379T>C	GRCh37
NC_000002.10:g.32206883T>C	NCBI36
NG_008730.1:g.69700T>C , LRG_714:g.69700T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*834-98T>C	ENSP00000515816.1:n.*834-98T>C
ENST00000315285.9:c.1174-98T>C MANE Select	ENSP00000320885.3:n.1174-98T>C
ENST00000621856.2:c.1171-98T>C	ENSP00000482496.2:n.1171-98T>C
ENST00000642281.1:c.983-8253T>C
ENST00000642455.1:c.1075-98T>C	ENSP00000493827.1:n.1075-98T>C
ENST00000642751.1:c.948-98T>C
ENST00000642999.1:c.916-98T>C	ENSP00000496589.1:n.916-98T>C
ENST00000643327.1:c.333-98T>C
ENST00000643334.1:c.754-98T>C
ENST00000644408.1:c.1050-98T>C
ENST00000644954.1:c.820-98T>C	ENSP00000494312.1:n.820-98T>C
ENST00000645159.1:n.1813T>C
ENST00000645550.1:n.387-98T>C
ENST00000645671.1:c.624-98T>C
ENST00000645730.1:c.521-98T>C
ENST00000646082.1:c.820-98T>C
ENST00000646571.1:c.1078-98T>C	ENSP00000495015.1:n.1078-98T>C
ENST00000647007.1:n.866-98T>C
ENST00000647133.1:c.674-98T>C
ENST00000315285.7:c.1174-98T>C	ENSP00000320885.3:n.1174-98T>C
ENST00000345662.5:c.1078-98T>C	ENSP00000340817.1:n.1078-98T>C
ENST00000615843.4:c.1174-98T>C	ENSP00000480893.1:n.1174-98T>C
ENST00000621856.1:c.916-98T>C	ENSP00000482496.1:n.916-98T>C
NM_014946.3:c.1174-98T>C , LRG_714t1:c.1174-98T>C	NP_055761.2:n.1174-98T>C
NM_199436.1:c.1078-98T>C	NP_955468.1:n.1078-98T>C
XM_005264516.3:c.1171-98T>C	XP_005264573.1:n.1171-98T>C
XM_011533067.1:c.1174-98T>C	XP_011531369.1:n.1174-98T>C
NM_001363823.1:c.1171-98T>C	NP_001350752.1:n.1171-98T>C
NM_001363875.1:c.1075-98T>C	NP_001350804.1:n.1075-98T>C
XM_005264516.5:c.1171-98T>C	XP_005264573.1:n.1171-98T>C
XM_011533067.2:c.1174-98T>C	XP_011531369.1:n.1174-98T>C
XM_017004778.2:c.1078-98T>C	XP_016860267.1:n.1078-98T>C
NM_001363823.2:c.1171-98T>C	NP_001350752.1:n.1171-98T>C
NM_001363875.2:c.1075-98T>C	NP_001350804.1:n.1075-98T>C
NM_001377959.1:c.1078-98T>C	NP_001364888.1:n.1078-98T>C
NM_014946.4:c.1174-98T>C MANE Select	NP_055761.2:n.1174-98T>C
NM_199436.2:c.1078-98T>C	NP_955468.1:n.1078-98T>C