Canonical Allele Identifier: CA346503834

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32143400T>C , CM000664.2:g.32143400T>C	GRCh38
NC_000002.11:g.32368469T>C , CM000664.1:g.32368469T>C	GRCh37
NC_000002.10:g.32221973T>C	NCBI36
NG_008730.1:g.84790T>C , LRG_714:g.84790T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1601T>C MANE Select	NP_055761.2:p.Leu534Pro
ENST00000315285.9:c.1601T>C MANE Select	ENSP00000320885.3:p.Leu534Pro
NM_001363823.1:c.1598T>C	NP_001350752.1:p.Leu533Pro
NM_001363823.2:c.1598T>C	NP_001350752.1:p.Leu533Pro
NM_001363875.1:c.1502T>C	NP_001350804.1:p.Leu501Pro
NM_001363875.2:c.1502T>C	NP_001350804.1:p.Leu501Pro
NM_001377959.1:c.1505T>C	NP_001364888.1:p.Leu502Pro
NM_014946.3:c.1601T>C , LRG_714t1:c.1601T>C	NP_055761.2:p.Leu534Pro
NM_199436.1:c.1505T>C	NP_955468.1:p.Leu502Pro
NM_199436.2:c.1505T>C	NP_955468.1:p.Leu502Pro
ENST00000315285.7:c.1601T>C	ENSP00000320885.3:p.Leu534Pro
ENST00000345662.5:c.1505T>C	ENSP00000340817.1:p.Leu502Pro
ENST00000615843.4:c.1601T>C	ENSP00000480893.1:p.Leu534Pro
ENST00000621856.1:c.1343T>C	ENSP00000482496.1:p.Leu448Pro
ENST00000621856.2:c.1598T>C	ENSP00000482496.2:p.Leu533Pro
ENST00000642281.1:c.1338T>C
ENST00000642455.1:c.1502T>C	ENSP00000493827.1:p.Leu501Pro
ENST00000642751.1:c.1375T>C
ENST00000642999.1:c.1343T>C	ENSP00000496589.1:p.Leu448Pro
ENST00000643334.1:c.1181T>C
ENST00000644408.1:c.1477T>C
ENST00000644954.1:c.1247T>C	ENSP00000494312.1:p.Leu416Pro
ENST00000645159.1:n.2338T>C
ENST00000645671.1:c.1051T>C
ENST00000645730.1:c.780T>C
ENST00000646082.1:c.1247T>C
ENST00000646571.1:c.1505T>C	ENSP00000495015.1:p.Leu502Pro
ENST00000647007.1:n.1293T>C
ENST00000647133.1:c.1101T>C
ENST00000704289.1:c.*1261T>C	ENSP00000515816.1:n.*1261T>C
XM_005264516.3:c.1598T>C	XP_005264573.1:p.Leu533Pro
XM_005264516.5:c.1598T>C	XP_005264573.1:p.Leu533Pro
XM_011533067.1:c.1601T>C	XP_011531369.1:p.Leu534Pro
XM_011533067.2:c.1601T>C	XP_011531369.1:p.Leu534Pro
XM_017004778.2:c.1505T>C	XP_016860267.1:p.Leu502Pro