Canonical Allele Identifier: CA891842789

Gene: SPAST

Linked Data

• ClinVar Variation Id: 565925
• ClinVar RCV Id: RCV000685607
• dbSNP Id: rs1558606204
• MyVariant Identifiers: chr2:g.32289244_32289253dup (hg19) ; chr2:g.32064175_32064184dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064175_32064184dup , CM000664.2:g.32064175_32064184dup	GRCh38
NC_000002.11:g.32289244_32289253dup , CM000664.1:g.32289244_32289253dup	GRCh37
NC_000002.10:g.32142748_32142757dup	NCBI36
NG_008730.1:g.5565_5574dup , LRG_714:g.5565_5574dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.344_353dup	ENSP00000515816.1:p.Phe119ArgfsTer20
ENST00000315285.9:c.344_353dup MANE Select	ENSP00000320885.3:p.Phe119ArgfsTer20
ENST00000621856.2:c.344_353dup	ENSP00000482496.2:p.Phe119ArgfsTer20
ENST00000642281.1:c.228_237dup
ENST00000642455.1:c.344_353dup	ENSP00000493827.1:p.Phe119ArgfsTer20
ENST00000642751.1:c.214_223dup
ENST00000642999.1:c.86_95dup	ENSP00000496589.1:p.Phe33ArgfsTer20
ENST00000644408.1:c.220_229dup
ENST00000644954.1:c.86_95dup	ENSP00000494312.1:p.Phe33ArgfsTer20
ENST00000645400.1:c.185_194dup	ENSP00000496306.1:p.Phe66ArgfsTer20
ENST00000646082.1:c.178_187dup
ENST00000646571.1:c.344_353dup	ENSP00000495015.1:p.Phe119ArgfsTer20
ENST00000315285.7:c.344_353dup	ENSP00000320885.3:p.Phe119ArgfsTer20
ENST00000345662.5:c.344_353dup	ENSP00000340817.1:p.Phe119ArgfsTer20
ENST00000615843.4:c.344_353dup	ENSP00000480893.1:p.Phe119ArgfsTer20
ENST00000621856.1:c.86_95dup	ENSP00000482496.1:p.Phe33ArgfsTer20
NM_014946.3:c.344_353dup , LRG_714t1:c.344_353dup	NP_055761.2:p.Phe119ArgfsTer20
NM_199436.1:c.344_353dup	NP_955468.1:p.Phe119ArgfsTer20
XM_005264516.3:c.344_353dup	XP_005264573.1:p.Phe119ArgfsTer20
XM_011533067.1:c.344_353dup	XP_011531369.1:p.Phe119ArgfsTer20
NM_001363823.1:c.344_353dup	NP_001350752.1:p.Phe119ArgfsTer20
NM_001363875.1:c.344_353dup	NP_001350804.1:p.Phe119ArgfsTer20
XM_005264516.5:c.344_353dup	XP_005264573.1:p.Phe119ArgfsTer20
XM_011533067.2:c.344_353dup	XP_011531369.1:p.Phe119ArgfsTer20
XM_017004778.2:c.344_353dup	XP_016860267.1:p.Phe119ArgfsTer20
NM_001363823.2:c.344_353dup	NP_001350752.1:p.Phe119ArgfsTer20
NM_001363875.2:c.344_353dup	NP_001350804.1:p.Phe119ArgfsTer20
NM_001377959.1:c.344_353dup	NP_001364888.1:p.Phe119ArgfsTer20
NM_014946.4:c.344_353dup MANE Select	NP_055761.2:p.Phe119ArgfsTer20
NM_199436.2:c.344_353dup	NP_955468.1:p.Phe119ArgfsTer20