Canonical Allele Identifier: CA1242497458

Gene: SPAST

Linked Data

• dbSNP Id: rs1327466439
• gnomAD v4: 2-32127075-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127082dup , CM000664.2:g.32127082dup	GRCh38
NC_000002.11:g.32352151dup , CM000664.1:g.32352151dup	GRCh37
NC_000002.10:g.32205655dup	NCBI36
NG_008730.1:g.68472dup , LRG_714:g.68472dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*833+60dup	ENSP00000515816.1:n.*833+60dup
ENST00000315285.9:c.1173+60dup MANE Select	ENSP00000320885.3:n.1173+60dup
ENST00000621856.2:c.1170+60dup	ENSP00000482496.2:n.1170+60dup
ENST00000642281.1:c.983-9481dup
ENST00000642455.1:c.1074+60dup	ENSP00000493827.1:n.1074+60dup
ENST00000642751.1:c.947+60dup
ENST00000642999.1:c.915+60dup	ENSP00000496589.1:n.915+60dup
ENST00000643327.1:c.332+60dup
ENST00000643334.1:c.753+60dup
ENST00000644408.1:c.1049+60dup
ENST00000644954.1:c.819+60dup	ENSP00000494312.1:n.819+60dup
ENST00000645159.1:n.585dup
ENST00000645550.1:n.386+60dup
ENST00000645671.1:c.623+60dup
ENST00000645730.1:c.520+60dup
ENST00000646082.1:c.819+60dup
ENST00000646571.1:c.1077+60dup	ENSP00000495015.1:n.1077+60dup
ENST00000647007.1:n.865+60dup
ENST00000647133.1:c.674-1326dup
ENST00000315285.7:c.1173+60dup	ENSP00000320885.3:n.1173+60dup
ENST00000345662.5:c.1077+60dup	ENSP00000340817.1:n.1077+60dup
ENST00000615843.4:c.1173+60dup	ENSP00000480893.1:n.1173+60dup
ENST00000621856.1:c.915+60dup	ENSP00000482496.1:n.915+60dup
NM_014946.3:c.1173+60dup , LRG_714t1:c.1173+60dup	NP_055761.2:n.1173+60dup
NM_199436.1:c.1077+60dup	NP_955468.1:n.1077+60dup
XM_005264516.3:c.1170+60dup	XP_005264573.1:n.1170+60dup
XM_011533067.1:c.1173+60dup	XP_011531369.1:n.1173+60dup
NM_001363823.1:c.1170+60dup	NP_001350752.1:n.1170+60dup
NM_001363875.1:c.1074+60dup	NP_001350804.1:n.1074+60dup
XM_005264516.5:c.1170+60dup	XP_005264573.1:n.1170+60dup
XM_011533067.2:c.1173+60dup	XP_011531369.1:n.1173+60dup
XM_017004778.2:c.1077+60dup	XP_016860267.1:n.1077+60dup
NM_001363823.2:c.1170+60dup	NP_001350752.1:n.1170+60dup
NM_001363875.2:c.1074+60dup	NP_001350804.1:n.1074+60dup
NM_001377959.1:c.1077+60dup	NP_001364888.1:n.1077+60dup
NM_014946.4:c.1173+60dup MANE Select	NP_055761.2:n.1173+60dup
NM_199436.2:c.1077+60dup	NP_955468.1:n.1077+60dup