Canonical Allele Identifier: CA346501295

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1675775
• ClinVar RCV Id: RCV002214144
• dbSNP Id: rs2148745001
• MyVariant Identifiers: chr2:g.32352066C>A (hg19) ; chr2:g.32126997C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126997C>A , CM000664.2:g.32126997C>A	GRCh38
NC_000002.11:g.32352066C>A , CM000664.1:g.32352066C>A	GRCh37
NC_000002.10:g.32205570C>A	NCBI36
NG_008730.1:g.68387C>A , LRG_714:g.68387C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*808C>A	ENSP00000515816.1:n.*808C>A
ENST00000315285.9:c.1148C>A MANE Select	ENSP00000320885.3:p.Pro383Gln
ENST00000621856.2:c.1145C>A	ENSP00000482496.2:p.Pro382Gln
ENST00000642281.1:c.983-9566C>A
ENST00000642455.1:c.1049C>A	ENSP00000493827.1:p.Pro350Gln
ENST00000642751.1:c.922C>A
ENST00000642999.1:c.890C>A	ENSP00000496589.1:p.Pro297Gln
ENST00000643327.1:c.307C>A
ENST00000643334.1:c.728C>A
ENST00000644408.1:c.1024C>A
ENST00000644954.1:c.794C>A	ENSP00000494312.1:p.Pro265Gln
ENST00000645159.1:n.500C>A
ENST00000645550.1:n.361C>A
ENST00000645671.1:c.598C>A
ENST00000645730.1:c.495C>A
ENST00000646082.1:c.794C>A
ENST00000646571.1:c.1052C>A	ENSP00000495015.1:p.Pro351Gln
ENST00000647007.1:n.840C>A
ENST00000647133.1:c.674-1411C>A
ENST00000315285.7:c.1148C>A	ENSP00000320885.3:p.Pro383Gln
ENST00000345662.5:c.1052C>A	ENSP00000340817.1:p.Pro351Gln
ENST00000615843.4:c.1148C>A	ENSP00000480893.1:p.Pro383Gln
ENST00000621856.1:c.890C>A	ENSP00000482496.1:p.Pro297Gln
NM_014946.3:c.1148C>A , LRG_714t1:c.1148C>A	NP_055761.2:p.Pro383Gln
NM_199436.1:c.1052C>A	NP_955468.1:p.Pro351Gln
XM_005264516.3:c.1145C>A	XP_005264573.1:p.Pro382Gln
XM_011533067.1:c.1148C>A	XP_011531369.1:p.Pro383Gln
NM_001363823.1:c.1145C>A	NP_001350752.1:p.Pro382Gln
NM_001363875.1:c.1049C>A	NP_001350804.1:p.Pro350Gln
XM_005264516.5:c.1145C>A	XP_005264573.1:p.Pro382Gln
XM_011533067.2:c.1148C>A	XP_011531369.1:p.Pro383Gln
XM_017004778.2:c.1052C>A	XP_016860267.1:p.Pro351Gln
NM_001363823.2:c.1145C>A	NP_001350752.1:p.Pro382Gln
NM_001363875.2:c.1049C>A	NP_001350804.1:p.Pro350Gln
NM_001377959.1:c.1052C>A	NP_001364888.1:p.Pro351Gln
NM_014946.4:c.1148C>A MANE Select	NP_055761.2:p.Pro383Gln
NM_199436.2:c.1052C>A	NP_955468.1:p.Pro351Gln