Canonical Allele Identifier: CA767796147

Gene: SPAST

Linked Data

• dbSNP Id: rs1327429363
• gnomAD v3: 2-32142088-C-CT
• gnomAD v4: 2-32142088-C-CT
• MyVariant Identifiers: chr2:g.32367157_32367158insT (hg19) ; chr2:g.32142088_32142089insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32142089dup , CM000664.2:g.32142089dup	GRCh38
NC_000002.11:g.32367158dup , CM000664.1:g.32367158dup	GRCh37
NC_000002.10:g.32220662dup	NCBI36
NG_008730.1:g.83479dup , LRG_714:g.83479dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1196+143dup	ENSP00000515816.1:n.*1196+143dup
ENST00000315285.9:c.1536+143dup MANE Select	ENSP00000320885.3:n.1536+143dup
ENST00000621856.2:c.1533+143dup	ENSP00000482496.2:n.1533+143dup
ENST00000642281.1:c.1273+143dup
ENST00000642455.1:c.1437+143dup	ENSP00000493827.1:n.1437+143dup
ENST00000642751.1:c.1310+143dup
ENST00000642999.1:c.1278+143dup	ENSP00000496589.1:n.1278+143dup
ENST00000643327.1:c.603+143dup
ENST00000643334.1:c.1116+143dup
ENST00000644408.1:c.1412+143dup
ENST00000644954.1:c.1182+143dup	ENSP00000494312.1:n.1182+143dup
ENST00000645159.1:n.2273+143dup
ENST00000645671.1:c.986+143dup
ENST00000645730.1:c.715+143dup
ENST00000646082.1:c.1182+143dup
ENST00000646571.1:c.1440+143dup	ENSP00000495015.1:n.1440+143dup
ENST00000647007.1:n.1228+143dup
ENST00000647133.1:c.1036+143dup
ENST00000315285.7:c.1536+143dup	ENSP00000320885.3:n.1536+143dup
ENST00000345662.5:c.1440+143dup	ENSP00000340817.1:n.1440+143dup
ENST00000615843.4:c.1536+143dup	ENSP00000480893.1:n.1536+143dup
ENST00000621856.1:c.1278+143dup	ENSP00000482496.1:n.1278+143dup
NM_014946.3:c.1536+143dup , LRG_714t1:c.1536+143dup	NP_055761.2:n.1536+143dup
NM_199436.1:c.1440+143dup	NP_955468.1:n.1440+143dup
XM_005264516.3:c.1533+143dup	XP_005264573.1:n.1533+143dup
XM_011533067.1:c.1536+143dup	XP_011531369.1:n.1536+143dup
NM_001363823.1:c.1533+143dup	NP_001350752.1:n.1533+143dup
NM_001363875.1:c.1437+143dup	NP_001350804.1:n.1437+143dup
XM_005264516.5:c.1533+143dup	XP_005264573.1:n.1533+143dup
XM_011533067.2:c.1536+143dup	XP_011531369.1:n.1536+143dup
XM_017004778.2:c.1440+143dup	XP_016860267.1:n.1440+143dup
NM_001363823.2:c.1533+143dup	NP_001350752.1:n.1533+143dup
NM_001363875.2:c.1437+143dup	NP_001350804.1:n.1437+143dup
NM_001377959.1:c.1440+143dup	NP_001364888.1:n.1440+143dup
NM_014946.4:c.1536+143dup MANE Select	NP_055761.2:n.1536+143dup
NM_199436.2:c.1440+143dup	NP_955468.1:n.1440+143dup