Canonical Allele Identifier: CA346502844

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32366980A>T (hg19) ; chr2:g.32141911A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32141911A>T , CM000664.2:g.32141911A>T	GRCh38
NC_000002.11:g.32366980A>T , CM000664.1:g.32366980A>T	GRCh37
NC_000002.10:g.32220484A>T	NCBI36
NG_008730.1:g.83301A>T , LRG_714:g.83301A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1161A>T	ENSP00000515816.1:n.*1161A>T
ENST00000315285.9:c.1501A>T MANE Select	ENSP00000320885.3:p.Ile501Phe
ENST00000621856.2:c.1498A>T	ENSP00000482496.2:p.Ile500Phe
ENST00000642281.1:c.1238A>T
ENST00000642455.1:c.1402A>T	ENSP00000493827.1:p.Ile468Phe
ENST00000642751.1:c.1275A>T
ENST00000642999.1:c.1243A>T	ENSP00000496589.1:p.Ile415Phe
ENST00000643327.1:c.568A>T
ENST00000643334.1:c.1081A>T
ENST00000644408.1:c.1377A>T
ENST00000644954.1:c.1147A>T	ENSP00000494312.1:p.Ile383Phe
ENST00000645159.1:n.2238A>T
ENST00000645671.1:c.951A>T
ENST00000645730.1:c.680A>T
ENST00000646082.1:c.1147A>T
ENST00000646571.1:c.1405A>T	ENSP00000495015.1:p.Ile469Phe
ENST00000647007.1:n.1193A>T
ENST00000647133.1:c.1001A>T
ENST00000315285.7:c.1501A>T	ENSP00000320885.3:p.Ile501Phe
ENST00000345662.5:c.1405A>T	ENSP00000340817.1:p.Ile469Phe
ENST00000615843.4:c.1501A>T	ENSP00000480893.1:p.Ile501Phe
ENST00000621856.1:c.1243A>T	ENSP00000482496.1:p.Ile415Phe
NM_014946.3:c.1501A>T , LRG_714t1:c.1501A>T	NP_055761.2:p.Ile501Phe
NM_199436.1:c.1405A>T	NP_955468.1:p.Ile469Phe
XM_005264516.3:c.1498A>T	XP_005264573.1:p.Ile500Phe
XM_011533067.1:c.1501A>T	XP_011531369.1:p.Ile501Phe
NM_001363823.1:c.1498A>T	NP_001350752.1:p.Ile500Phe
NM_001363875.1:c.1402A>T	NP_001350804.1:p.Ile468Phe
XM_005264516.5:c.1498A>T	XP_005264573.1:p.Ile500Phe
XM_011533067.2:c.1501A>T	XP_011531369.1:p.Ile501Phe
XM_017004778.2:c.1405A>T	XP_016860267.1:p.Ile469Phe
NM_001363823.2:c.1498A>T	NP_001350752.1:p.Ile500Phe
NM_001363875.2:c.1402A>T	NP_001350804.1:p.Ile468Phe
NM_001377959.1:c.1405A>T	NP_001364888.1:p.Ile469Phe
NM_014946.4:c.1501A>T MANE Select	NP_055761.2:p.Ile501Phe
NM_199436.2:c.1405A>T	NP_955468.1:p.Ile469Phe