Canonical Allele Identifier: CA346503641

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32143349T>C , CM000664.2:g.32143349T>C	GRCh38
NC_000002.11:g.32368418T>C , CM000664.1:g.32368418T>C	GRCh37
NC_000002.10:g.32221922T>C	NCBI36
NG_008730.1:g.84739T>C , LRG_714:g.84739T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1550T>C MANE Select	NP_055761.2:p.Leu517Ser
ENST00000315285.9:c.1550T>C MANE Select	ENSP00000320885.3:p.Leu517Ser
NM_001363823.1:c.1547T>C	NP_001350752.1:p.Leu516Ser
NM_001363823.2:c.1547T>C	NP_001350752.1:p.Leu516Ser
NM_001363875.1:c.1451T>C	NP_001350804.1:p.Leu484Ser
NM_001363875.2:c.1451T>C	NP_001350804.1:p.Leu484Ser
NM_001377959.1:c.1454T>C	NP_001364888.1:p.Leu485Ser
NM_014946.3:c.1550T>C , LRG_714t1:c.1550T>C	NP_055761.2:p.Leu517Ser
NM_199436.1:c.1454T>C	NP_955468.1:p.Leu485Ser
NM_199436.2:c.1454T>C	NP_955468.1:p.Leu485Ser
ENST00000315285.7:c.1550T>C	ENSP00000320885.3:p.Leu517Ser
ENST00000345662.5:c.1454T>C	ENSP00000340817.1:p.Leu485Ser
ENST00000615843.4:c.1550T>C	ENSP00000480893.1:p.Leu517Ser
ENST00000621856.1:c.1292T>C	ENSP00000482496.1:p.Leu431Ser
ENST00000621856.2:c.1547T>C	ENSP00000482496.2:p.Leu516Ser
ENST00000642281.1:c.1287T>C
ENST00000642455.1:c.1451T>C	ENSP00000493827.1:p.Leu484Ser
ENST00000642751.1:c.1324T>C
ENST00000642999.1:c.1292T>C	ENSP00000496589.1:p.Leu431Ser
ENST00000643327.1:c.617T>C
ENST00000643334.1:c.1130T>C
ENST00000644408.1:c.1426T>C
ENST00000644954.1:c.1196T>C	ENSP00000494312.1:p.Leu399Ser
ENST00000645159.1:n.2287T>C
ENST00000645671.1:c.1000T>C
ENST00000645730.1:c.729T>C
ENST00000646082.1:c.1196T>C
ENST00000646571.1:c.1454T>C	ENSP00000495015.1:p.Leu485Ser
ENST00000647007.1:n.1242T>C
ENST00000647133.1:c.1050T>C
ENST00000704289.1:c.*1210T>C	ENSP00000515816.1:n.*1210T>C
XM_005264516.3:c.1547T>C	XP_005264573.1:p.Leu516Ser
XM_005264516.5:c.1547T>C	XP_005264573.1:p.Leu516Ser
XM_011533067.1:c.1550T>C	XP_011531369.1:p.Leu517Ser
XM_011533067.2:c.1550T>C	XP_011531369.1:p.Leu517Ser
XM_017004778.2:c.1454T>C	XP_016860267.1:p.Leu485Ser