Canonical Allele Identifier: CA1600835

Gene: SPAST

Linked Data

• dbSNP Id: rs539763871
• ExAC: 2:32353502 A / T
• gnomAD v2: 2-32353502-A-T
• gnomAD v3: 2-32128433-A-T
• gnomAD v4: 2-32128433-A-T
• MyVariant Identifiers: chr2:g.32353502A>T (hg19) ; chr2:g.32128433A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128433A>T , CM000664.2:g.32128433A>T	GRCh38
NC_000002.11:g.32353502A>T , CM000664.1:g.32353502A>T	GRCh37
NC_000002.10:g.32207006A>T	NCBI36
NG_008730.1:g.69823A>T , LRG_714:g.69823A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*859A>T	ENSP00000515816.1:n.*859A>T
ENST00000315285.9:c.1199A>T MANE Select	ENSP00000320885.3:p.Asn400Ile
ENST00000621856.2:c.1196A>T	ENSP00000482496.2:p.Asn399Ile
ENST00000642281.1:c.983-8130A>T
ENST00000642455.1:c.1100A>T	ENSP00000493827.1:p.Asn367Ile
ENST00000642751.1:c.973A>T
ENST00000642999.1:c.941A>T	ENSP00000496589.1:p.Asn314Ile
ENST00000643327.1:c.358A>T
ENST00000643334.1:c.779A>T
ENST00000644408.1:c.1075A>T
ENST00000644954.1:c.845A>T	ENSP00000494312.1:p.Asn282Ile
ENST00000645159.1:n.1936A>T
ENST00000645550.1:n.412A>T
ENST00000645671.1:c.649A>T
ENST00000645730.1:c.546A>T
ENST00000646082.1:c.845A>T
ENST00000646571.1:c.1103A>T	ENSP00000495015.1:p.Asn368Ile
ENST00000647007.1:n.891A>T
ENST00000647133.1:c.699A>T
ENST00000315285.7:c.1199A>T	ENSP00000320885.3:p.Asn400Ile
ENST00000345662.5:c.1103A>T	ENSP00000340817.1:p.Asn368Ile
ENST00000615843.4:c.1199A>T	ENSP00000480893.1:p.Asn400Ile
ENST00000621856.1:c.941A>T	ENSP00000482496.1:p.Asn314Ile
NM_014946.3:c.1199A>T , LRG_714t1:c.1199A>T	NP_055761.2:p.Asn400Ile
NM_199436.1:c.1103A>T	NP_955468.1:p.Asn368Ile
XM_005264516.3:c.1196A>T	XP_005264573.1:p.Asn399Ile
XM_011533067.1:c.1199A>T	XP_011531369.1:p.Asn400Ile
NM_001363823.1:c.1196A>T	NP_001350752.1:p.Asn399Ile
NM_001363875.1:c.1100A>T	NP_001350804.1:p.Asn367Ile
XM_005264516.5:c.1196A>T	XP_005264573.1:p.Asn399Ile
XM_011533067.2:c.1199A>T	XP_011531369.1:p.Asn400Ile
XM_017004778.2:c.1103A>T	XP_016860267.1:p.Asn368Ile
NM_001363823.2:c.1196A>T	NP_001350752.1:p.Asn399Ile
NM_001363875.2:c.1100A>T	NP_001350804.1:p.Asn367Ile
NM_001377959.1:c.1103A>T	NP_001364888.1:p.Asn368Ile
NM_014946.4:c.1199A>T MANE Select	NP_055761.2:p.Asn400Ile
NM_199436.2:c.1103A>T	NP_955468.1:p.Asn368Ile