Canonical Allele Identifier: CA346501330

Gene: SPAST

Linked Data

• ClinVar Variation Id: 450255
• ClinVar RCV Id: RCV000521931 ; RCV000528465
• dbSNP Id: rs1553316838
• MyVariant Identifiers: chr2:g.32352082G>T (hg19) ; chr2:g.32127013G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127013G>T , CM000664.2:g.32127013G>T	GRCh38
NC_000002.11:g.32352082G>T , CM000664.1:g.32352082G>T	GRCh37
NC_000002.10:g.32205586G>T	NCBI36
NG_008730.1:g.68403G>T , LRG_714:g.68403G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*824G>T	ENSP00000515816.1:n.*824G>T
ENST00000315285.9:c.1164G>T MANE Select	ENSP00000320885.3:p.Lys388Asn
ENST00000621856.2:c.1161G>T	ENSP00000482496.2:p.Lys387Asn
ENST00000642281.1:c.983-9550G>T
ENST00000642455.1:c.1065G>T	ENSP00000493827.1:p.Lys355Asn
ENST00000642751.1:c.938G>T
ENST00000642999.1:c.906G>T	ENSP00000496589.1:p.Lys302Asn
ENST00000643327.1:c.323G>T
ENST00000643334.1:c.744G>T
ENST00000644408.1:c.1040G>T
ENST00000644954.1:c.810G>T	ENSP00000494312.1:p.Lys270Asn
ENST00000645159.1:n.516G>T
ENST00000645550.1:n.377G>T
ENST00000645671.1:c.614G>T
ENST00000645730.1:c.511G>T
ENST00000646082.1:c.810G>T
ENST00000646571.1:c.1068G>T	ENSP00000495015.1:p.Lys356Asn
ENST00000647007.1:n.856G>T
ENST00000647133.1:c.674-1395G>T
ENST00000315285.7:c.1164G>T	ENSP00000320885.3:p.Lys388Asn
ENST00000345662.5:c.1068G>T	ENSP00000340817.1:p.Lys356Asn
ENST00000615843.4:c.1164G>T	ENSP00000480893.1:p.Lys388Asn
ENST00000621856.1:c.906G>T	ENSP00000482496.1:p.Lys302Asn
NM_014946.3:c.1164G>T , LRG_714t1:c.1164G>T	NP_055761.2:p.Lys388Asn
NM_199436.1:c.1068G>T	NP_955468.1:p.Lys356Asn
XM_005264516.3:c.1161G>T	XP_005264573.1:p.Lys387Asn
XM_011533067.1:c.1164G>T	XP_011531369.1:p.Lys388Asn
NM_001363823.1:c.1161G>T	NP_001350752.1:p.Lys387Asn
NM_001363875.1:c.1065G>T	NP_001350804.1:p.Lys355Asn
XM_005264516.5:c.1161G>T	XP_005264573.1:p.Lys387Asn
XM_011533067.2:c.1164G>T	XP_011531369.1:p.Lys388Asn
XM_017004778.2:c.1068G>T	XP_016860267.1:p.Lys356Asn
NM_001363823.2:c.1161G>T	NP_001350752.1:p.Lys387Asn
NM_001363875.2:c.1065G>T	NP_001350804.1:p.Lys355Asn
NM_001377959.1:c.1068G>T	NP_001364888.1:p.Lys356Asn
NM_014946.4:c.1164G>T MANE Select	NP_055761.2:p.Lys388Asn
NM_199436.2:c.1068G>T	NP_955468.1:p.Lys356Asn