Canonical Allele Identifier: CA346505568

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32154399T>C , CM000664.2:g.32154399T>C	GRCh38
NC_000002.11:g.32379468T>C , CM000664.1:g.32379468T>C	GRCh37
NC_000002.10:g.32232972T>C	NCBI36
NG_008730.1:g.95789T>C , LRG_714:g.95789T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1754T>C MANE Select	NP_055761.2:p.Phe585Ser
ENST00000315285.9:c.1754T>C MANE Select	ENSP00000320885.3:p.Phe585Ser
NM_001363823.1:c.1751T>C	NP_001350752.1:p.Phe584Ser
NM_001363823.2:c.1751T>C	NP_001350752.1:p.Phe584Ser
NM_001363875.1:c.1655T>C	NP_001350804.1:p.Phe552Ser
NM_001363875.2:c.1655T>C	NP_001350804.1:p.Phe552Ser
NM_001377959.1:c.*27T>C	NP_001364888.1:n.*27T>C
NM_014946.3:c.1754T>C , LRG_714t1:c.1754T>C	NP_055761.2:p.Phe585Ser
NM_199436.1:c.1658T>C	NP_955468.1:p.Phe553Ser
NM_199436.2:c.1658T>C	NP_955468.1:p.Phe553Ser
ENST00000315285.7:c.1754T>C	ENSP00000320885.3:p.Phe585Ser
ENST00000345662.5:c.1658T>C	ENSP00000340817.1:p.Phe553Ser
ENST00000615843.4:c.1754T>C	ENSP00000480893.1:p.Phe585Ser
ENST00000621856.1:c.1496T>C	ENSP00000482496.1:p.Phe499Ser
ENST00000621856.2:c.1751T>C	ENSP00000482496.2:p.Phe584Ser
ENST00000642281.1:c.1491T>C
ENST00000642455.1:c.1655T>C	ENSP00000493827.1:p.Phe552Ser
ENST00000642751.1:c.1457T>C
ENST00000642999.1:c.1496T>C	ENSP00000496589.1:p.Phe499Ser
ENST00000643334.1:c.1334T>C
ENST00000644408.1:c.1653T>C
ENST00000644954.1:c.1400T>C	ENSP00000494312.1:p.Phe467Ser
ENST00000645159.1:n.2491T>C
ENST00000645671.1:c.1133T>C
ENST00000645730.1:c.933T>C
ENST00000646082.1:c.1400T>C
ENST00000646571.1:c.1658T>C	ENSP00000495015.1:p.Phe553Ser
ENST00000647007.1:n.1446T>C
ENST00000647133.1:c.1254T>C
ENST00000704289.1:c.*1414T>C	ENSP00000515816.1:n.*1414T>C
XM_005264516.3:c.1751T>C	XP_005264573.1:p.Phe584Ser
XM_005264516.5:c.1751T>C	XP_005264573.1:p.Phe584Ser
XM_011533067.1:c.*27T>C	XP_011531369.1:n.*27T>C
XM_011533067.2:c.*27T>C	XP_011531369.1:n.*27T>C
XM_017004778.2:c.*27T>C	XP_016860267.1:n.*27T>C