Canonical Allele Identifier: CA348091

Gene: SPAST

Linked Data

• ClinVar Variation Id: 219966
• ClinVar RCV Id: RCV000203812
• dbSNP Id: rs864622327
• MyVariant Identifiers: chr2:g.32352033G>T (hg19) ; chr2:g.32126964G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126964G>T , CM000664.2:g.32126964G>T	GRCh38
NC_000002.11:g.32352033G>T , CM000664.1:g.32352033G>T	GRCh37
NC_000002.10:g.32205537G>T	NCBI36
NG_008730.1:g.68354G>T , LRG_714:g.68354G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*775G>T	ENSP00000515816.1:n.*775G>T
ENST00000315285.9:c.1115G>T MANE Select	ENSP00000320885.3:p.Arg372Ile
ENST00000621856.2:c.1112G>T	ENSP00000482496.2:p.Arg371Ile
ENST00000642281.1:c.983-9599G>T
ENST00000642455.1:c.1016G>T	ENSP00000493827.1:p.Arg339Ile
ENST00000642751.1:c.889G>T
ENST00000642999.1:c.857G>T	ENSP00000496589.1:p.Arg286Ile
ENST00000643327.1:c.274G>T
ENST00000643334.1:c.695G>T
ENST00000644408.1:c.991G>T
ENST00000644954.1:c.761G>T	ENSP00000494312.1:p.Arg254Ile
ENST00000645159.1:n.467G>T
ENST00000645550.1:n.328G>T
ENST00000645671.1:c.565G>T
ENST00000645730.1:c.462G>T
ENST00000646082.1:c.761G>T
ENST00000646571.1:c.1019G>T	ENSP00000495015.1:p.Arg340Ile
ENST00000647007.1:n.807G>T
ENST00000647133.1:c.674-1444G>T
ENST00000315285.7:c.1115G>T	ENSP00000320885.3:p.Arg372Ile
ENST00000345662.5:c.1019G>T	ENSP00000340817.1:p.Arg340Ile
ENST00000615843.4:c.1115G>T	ENSP00000480893.1:p.Arg372Ile
ENST00000621856.1:c.857G>T	ENSP00000482496.1:p.Arg286Ile
NM_014946.3:c.1115G>T , LRG_714t1:c.1115G>T	NP_055761.2:p.Arg372Ile
NM_199436.1:c.1019G>T	NP_955468.1:p.Arg340Ile
XM_005264516.3:c.1112G>T	XP_005264573.1:p.Arg371Ile
XM_011533067.1:c.1115G>T	XP_011531369.1:p.Arg372Ile
NM_001363823.1:c.1112G>T	NP_001350752.1:p.Arg371Ile
NM_001363875.1:c.1016G>T	NP_001350804.1:p.Arg339Ile
XM_005264516.5:c.1112G>T	XP_005264573.1:p.Arg371Ile
XM_011533067.2:c.1115G>T	XP_011531369.1:p.Arg372Ile
XM_017004778.2:c.1019G>T	XP_016860267.1:p.Arg340Ile
NM_001363823.2:c.1112G>T	NP_001350752.1:p.Arg371Ile
NM_001363875.2:c.1016G>T	NP_001350804.1:p.Arg339Ile
NM_001377959.1:c.1019G>T	NP_001364888.1:p.Arg340Ile
NM_014946.4:c.1115G>T MANE Select	NP_055761.2:p.Arg372Ile
NM_199436.2:c.1019G>T	NP_955468.1:p.Arg340Ile