Canonical Allele Identifier: CA346504387

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32372323G>T (hg19) ; chr2:g.32147254G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32147254G>T , CM000664.2:g.32147254G>T	GRCh38
NC_000002.11:g.32372323G>T , CM000664.1:g.32372323G>T	GRCh37
NC_000002.10:g.32225827G>T	NCBI36
NG_008730.1:g.88644G>T , LRG_714:g.88644G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1384G>T	ENSP00000515816.1:n.*1384G>T
ENST00000315285.9:c.1724G>T MANE Select	ENSP00000320885.3:p.Ser575Ile
ENST00000621856.2:c.1721G>T	ENSP00000482496.2:p.Ser574Ile
ENST00000642281.1:c.1461G>T
ENST00000642455.1:c.1625G>T	ENSP00000493827.1:p.Ser542Ile
ENST00000642751.1:c.1427G>T
ENST00000642999.1:c.1466G>T	ENSP00000496589.1:p.Ser489Ile
ENST00000643334.1:c.1304G>T
ENST00000644408.1:c.1623G>T
ENST00000644954.1:c.1370G>T	ENSP00000494312.1:p.Ser457Ile
ENST00000645159.1:n.2461G>T
ENST00000645671.1:c.1103G>T
ENST00000645730.1:c.903G>T
ENST00000646082.1:c.1370G>T
ENST00000646571.1:c.1628G>T	ENSP00000495015.1:p.Ser543Ile
ENST00000647007.1:n.1416G>T
ENST00000647133.1:c.1224G>T
ENST00000315285.7:c.1724G>T	ENSP00000320885.3:p.Ser575Ile
ENST00000345662.5:c.1628G>T	ENSP00000340817.1:p.Ser543Ile
ENST00000615843.4:c.1724G>T	ENSP00000480893.1:p.Ser575Ile
ENST00000621856.1:c.1466G>T	ENSP00000482496.1:p.Ser489Ile
NM_014946.3:c.1724G>T , LRG_714t1:c.1724G>T	NP_055761.2:p.Ser575Ile
NM_199436.1:c.1628G>T	NP_955468.1:p.Ser543Ile
XM_005264516.3:c.1721G>T	XP_005264573.1:p.Ser574Ile
XM_011533067.1:c.1653G>T	XP_011531369.1:p.Gln551His
NM_001363823.1:c.1721G>T	NP_001350752.1:p.Ser574Ile
NM_001363875.1:c.1625G>T	NP_001350804.1:p.Ser542Ile
XM_005264516.5:c.1721G>T	XP_005264573.1:p.Ser574Ile
XM_011533067.2:c.1653G>T	XP_011531369.1:p.Gln551His
XM_017004778.2:c.1557G>T	XP_016860267.1:p.Gln519His
NM_001363823.2:c.1721G>T	NP_001350752.1:p.Ser574Ile
NM_001363875.2:c.1625G>T	NP_001350804.1:p.Ser542Ile
NM_001377959.1:c.1557G>T	NP_001364888.1:p.Gln519His
NM_014946.4:c.1724G>T MANE Select	NP_055761.2:p.Ser575Ile
NM_199436.2:c.1628G>T	NP_955468.1:p.Ser543Ile