Canonical Allele Identifier: CA346502822

Gene: SPAST

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32141905C>A , CM000664.2:g.32141905C>A	GRCh38
NC_000002.11:g.32366974C>A , CM000664.1:g.32366974C>A	GRCh37
NC_000002.10:g.32220478C>A	NCBI36
NG_008730.1:g.83295C>A , LRG_714:g.83295C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1155C>A	ENSP00000515816.1:n.*1155C>A
ENST00000315285.9:c.1495C>A MANE Select	ENSP00000320885.3:p.Arg499Ser
ENST00000621856.2:c.1492C>A	ENSP00000482496.2:p.Arg498Ser
ENST00000642281.1:c.1232C>A
ENST00000642455.1:c.1396C>A	ENSP00000493827.1:p.Arg466Ser
ENST00000642751.1:c.1269C>A
ENST00000642999.1:c.1237C>A	ENSP00000496589.1:p.Arg413Ser
ENST00000643327.1:c.562C>A
ENST00000643334.1:c.1075C>A
ENST00000644408.1:c.1371C>A
ENST00000644954.1:c.1141C>A	ENSP00000494312.1:p.Arg381Ser
ENST00000645159.1:n.2232C>A
ENST00000645671.1:c.945C>A
ENST00000645730.1:c.674C>A
ENST00000646082.1:c.1141C>A
ENST00000646571.1:c.1399C>A	ENSP00000495015.1:p.Arg467Ser
ENST00000647007.1:n.1187C>A
ENST00000647133.1:c.995C>A
ENST00000315285.7:c.1495C>A	ENSP00000320885.3:p.Arg499Ser
ENST00000345662.5:c.1399C>A	ENSP00000340817.1:p.Arg467Ser
ENST00000615843.4:c.1495C>A	ENSP00000480893.1:p.Arg499Ser
ENST00000621856.1:c.1237C>A	ENSP00000482496.1:p.Arg413Ser
NM_014946.3:c.1495C>A , LRG_714t1:c.1495C>A	NP_055761.2:p.Arg499Ser
NM_199436.1:c.1399C>A	NP_955468.1:p.Arg467Ser
XM_005264516.3:c.1492C>A	XP_005264573.1:p.Arg498Ser
XM_011533067.1:c.1495C>A	XP_011531369.1:p.Arg499Ser
NM_001363823.1:c.1492C>A	NP_001350752.1:p.Arg498Ser
NM_001363875.1:c.1396C>A	NP_001350804.1:p.Arg466Ser
XM_005264516.5:c.1492C>A	XP_005264573.1:p.Arg498Ser
XM_011533067.2:c.1495C>A	XP_011531369.1:p.Arg499Ser
XM_017004778.2:c.1399C>A	XP_016860267.1:p.Arg467Ser
NM_001363823.2:c.1492C>A	NP_001350752.1:p.Arg498Ser
NM_001363875.2:c.1396C>A	NP_001350804.1:p.Arg466Ser
NM_001377959.1:c.1399C>A	NP_001364888.1:p.Arg467Ser
NM_014946.4:c.1495C>A MANE Select	NP_055761.2:p.Arg499Ser
NM_199436.2:c.1399C>A	NP_955468.1:p.Arg467Ser