Canonical Allele Identifier: CA346502229

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32361977A>C (hg19) ; chr2:g.32136908A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136908A>C , CM000664.2:g.32136908A>C	GRCh38
NC_000002.11:g.32361977A>C , CM000664.1:g.32361977A>C	GRCh37
NC_000002.10:g.32215481A>C	NCBI36
NG_008730.1:g.78298A>C , LRG_714:g.78298A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1013A>C	ENSP00000515816.1:n.*1013A>C
ENST00000315285.9:c.1353A>C MANE Select	ENSP00000320885.3:p.Arg451Ser
ENST00000621856.2:c.1350A>C	ENSP00000482496.2:p.Arg450Ser
ENST00000642281.1:c.1090A>C
ENST00000642455.1:c.1254A>C	ENSP00000493827.1:p.Arg418Ser
ENST00000642751.1:c.1127A>C
ENST00000642999.1:c.1095A>C	ENSP00000496589.1:p.Arg365Ser
ENST00000643327.1:c.481-201A>C
ENST00000643334.1:c.933A>C
ENST00000644408.1:c.1229A>C
ENST00000644954.1:c.999A>C	ENSP00000494312.1:p.Arg333Ser
ENST00000645159.1:n.2090A>C
ENST00000645671.1:c.803A>C
ENST00000645730.1:c.593-201A>C
ENST00000646082.1:c.999A>C
ENST00000646571.1:c.1257A>C	ENSP00000495015.1:p.Arg419Ser
ENST00000647007.1:n.1045A>C
ENST00000647133.1:c.853A>C
ENST00000315285.7:c.1353A>C	ENSP00000320885.3:p.Arg451Ser
ENST00000345662.5:c.1257A>C	ENSP00000340817.1:p.Arg419Ser
ENST00000615843.4:c.1353A>C	ENSP00000480893.1:p.Arg451Ser
ENST00000621856.1:c.1095A>C	ENSP00000482496.1:p.Arg365Ser
NM_014946.3:c.1353A>C , LRG_714t1:c.1353A>C	NP_055761.2:p.Arg451Ser
NM_199436.1:c.1257A>C	NP_955468.1:p.Arg419Ser
XM_005264516.3:c.1350A>C	XP_005264573.1:p.Arg450Ser
XM_011533067.1:c.1353A>C	XP_011531369.1:p.Arg451Ser
NM_001363823.1:c.1350A>C	NP_001350752.1:p.Arg450Ser
NM_001363875.1:c.1254A>C	NP_001350804.1:p.Arg418Ser
XM_005264516.5:c.1350A>C	XP_005264573.1:p.Arg450Ser
XM_011533067.2:c.1353A>C	XP_011531369.1:p.Arg451Ser
XM_017004778.2:c.1257A>C	XP_016860267.1:p.Arg419Ser
NM_001363823.2:c.1350A>C	NP_001350752.1:p.Arg450Ser
NM_001363875.2:c.1254A>C	NP_001350804.1:p.Arg418Ser
NM_001377959.1:c.1257A>C	NP_001364888.1:p.Arg419Ser
NM_014946.4:c.1353A>C MANE Select	NP_055761.2:p.Arg451Ser
NM_199436.2:c.1257A>C	NP_955468.1:p.Arg419Ser