Canonical Allele Identifier: CA1029008906

Gene: SPAST

Linked Data

• dbSNP Id: rs1679911936
• gnomAD v3: 2-32147115-T-TACTG
• gnomAD v4: 2-32147115-T-TACTG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32147117_32147120dup , CM000664.2:g.32147117_32147120dup	GRCh38
NC_000002.11:g.32372186_32372189dup , CM000664.1:g.32372186_32372189dup	GRCh37
NC_000002.10:g.32225690_32225693dup	NCBI36
NG_008730.1:g.88507_88510dup , LRG_714:g.88507_88510dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1348-101_*1348-98dup	ENSP00000515816.1:n.*1348-101_*1348-98dup
ENST00000315285.9:c.1688-101_1688-98dup MANE Select	ENSP00000320885.3:n.1688-101_1688-98dup
ENST00000621856.2:c.1685-101_1685-98dup	ENSP00000482496.2:n.1685-101_1685-98dup
ENST00000642281.1:c.1425-101_1425-98dup
ENST00000642455.1:c.1589-101_1589-98dup	ENSP00000493827.1:n.1589-101_1589-98dup
ENST00000642751.1:c.1391-101_1391-98dup
ENST00000642999.1:c.1430-101_1430-98dup	ENSP00000496589.1:n.1430-101_1430-98dup
ENST00000643334.1:c.1268-101_1268-98dup
ENST00000644408.1:c.1564-78_1564-75dup
ENST00000644954.1:c.1334-101_1334-98dup	ENSP00000494312.1:n.1334-101_1334-98dup
ENST00000645159.1:n.2425-101_2425-98dup
ENST00000645671.1:c.1067-101_1067-98dup
ENST00000645730.1:c.867-101_867-98dup
ENST00000646082.1:c.1334-101_1334-98dup
ENST00000646571.1:c.1592-101_1592-98dup	ENSP00000495015.1:n.1592-101_1592-98dup
ENST00000647007.1:n.1380-101_1380-98dup
ENST00000647133.1:c.1188-101_1188-98dup
ENST00000315285.7:c.1688-101_1688-98dup	ENSP00000320885.3:n.1688-101_1688-98dup
ENST00000345662.5:c.1592-101_1592-98dup	ENSP00000340817.1:n.1592-101_1592-98dup
ENST00000615843.4:c.1688-101_1688-98dup	ENSP00000480893.1:n.1688-101_1688-98dup
ENST00000621856.1:c.1430-101_1430-98dup	ENSP00000482496.1:n.1430-101_1430-98dup
NM_014946.3:c.1688-101_1688-98dup , LRG_714t1:c.1688-101_1688-98dup	NP_055761.2:n.1688-101_1688-98dup
NM_199436.1:c.1592-101_1592-98dup	NP_955468.1:n.1592-101_1592-98dup
XM_005264516.3:c.1685-101_1685-98dup	XP_005264573.1:n.1685-101_1685-98dup
XM_011533067.1:c.1617-101_1617-98dup	XP_011531369.1:n.1617-101_1617-98dup
NM_001363823.1:c.1685-101_1685-98dup	NP_001350752.1:n.1685-101_1685-98dup
NM_001363875.1:c.1589-101_1589-98dup	NP_001350804.1:n.1589-101_1589-98dup
XM_005264516.5:c.1685-101_1685-98dup	XP_005264573.1:n.1685-101_1685-98dup
XM_011533067.2:c.1617-101_1617-98dup	XP_011531369.1:n.1617-101_1617-98dup
XM_017004778.2:c.1521-101_1521-98dup	XP_016860267.1:n.1521-101_1521-98dup
NM_001363823.2:c.1685-101_1685-98dup	NP_001350752.1:n.1685-101_1685-98dup
NM_001363875.2:c.1589-101_1589-98dup	NP_001350804.1:n.1589-101_1589-98dup
NM_001377959.1:c.1521-101_1521-98dup	NP_001364888.1:n.1521-101_1521-98dup
NM_014946.4:c.1688-101_1688-98dup MANE Select	NP_055761.2:n.1688-101_1688-98dup
NM_199436.2:c.1592-101_1592-98dup	NP_955468.1:n.1592-101_1592-98dup