Canonical Allele Identifier: CA346505587

Gene: SPAST

Linked Data

• ClinVar Variation Id: 430449
• ClinVar RCV Id: RCV000493133 ; RCV002289681
• dbSNP Id: rs1131691972
• MyVariant Identifiers: chr2:g.32379476T>C (hg19) ; chr2:g.32154407T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32154407T>C , CM000664.2:g.32154407T>C	GRCh38
NC_000002.11:g.32379476T>C , CM000664.1:g.32379476T>C	GRCh37
NC_000002.10:g.32232980T>C	NCBI36
NG_008730.1:g.95797T>C , LRG_714:g.95797T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1422T>C	ENSP00000515816.1:n.*1422T>C
ENST00000315285.9:c.1762T>C MANE Select	ENSP00000320885.3:p.Ser588Pro
ENST00000621856.2:c.1759T>C	ENSP00000482496.2:p.Ser587Pro
ENST00000642281.1:c.1499T>C
ENST00000642455.1:c.1663T>C	ENSP00000493827.1:p.Ser555Pro
ENST00000642751.1:c.1465T>C
ENST00000642999.1:c.1504T>C	ENSP00000496589.1:p.Ser502Pro
ENST00000643334.1:c.1342T>C
ENST00000644408.1:c.1661T>C
ENST00000644954.1:c.1408T>C	ENSP00000494312.1:p.Ser470Pro
ENST00000645159.1:n.2499T>C
ENST00000645671.1:c.1141T>C
ENST00000645730.1:c.941T>C
ENST00000646082.1:c.1408T>C
ENST00000646571.1:c.1666T>C	ENSP00000495015.1:p.Ser556Pro
ENST00000647007.1:n.1454T>C
ENST00000647133.1:c.1262T>C
ENST00000315285.7:c.1762T>C	ENSP00000320885.3:p.Ser588Pro
ENST00000345662.5:c.1666T>C	ENSP00000340817.1:p.Ser556Pro
ENST00000615843.4:c.1762T>C	ENSP00000480893.1:p.Ser588Pro
ENST00000621856.1:c.1504T>C	ENSP00000482496.1:p.Ser502Pro
NM_014946.3:c.1762T>C , LRG_714t1:c.1762T>C	NP_055761.2:p.Ser588Pro
NM_199436.1:c.1666T>C	NP_955468.1:p.Ser556Pro
XM_005264516.3:c.1759T>C	XP_005264573.1:p.Ser587Pro
XM_011533067.1:c.*35T>C	XP_011531369.1:n.*35T>C
NM_001363823.1:c.1759T>C	NP_001350752.1:p.Ser587Pro
NM_001363875.1:c.1663T>C	NP_001350804.1:p.Ser555Pro
XM_005264516.5:c.1759T>C	XP_005264573.1:p.Ser587Pro
XM_011533067.2:c.*35T>C	XP_011531369.1:n.*35T>C
XM_017004778.2:c.*35T>C	XP_016860267.1:n.*35T>C
NM_001363823.2:c.1759T>C	NP_001350752.1:p.Ser587Pro
NM_001363875.2:c.1663T>C	NP_001350804.1:p.Ser555Pro
NM_001377959.1:c.*35T>C	NP_001364888.1:n.*35T>C
NM_014946.4:c.1762T>C MANE Select	NP_055761.2:p.Ser588Pro
NM_199436.2:c.1666T>C	NP_955468.1:p.Ser556Pro