Canonical Allele Identifier: CA346501262

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32352051T>C (hg19) ; chr2:g.32126982T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126982T>C , CM000664.2:g.32126982T>C	GRCh38
NC_000002.11:g.32352051T>C , CM000664.1:g.32352051T>C	GRCh37
NC_000002.10:g.32205555T>C	NCBI36
NG_008730.1:g.68372T>C , LRG_714:g.68372T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*793T>C	ENSP00000515816.1:n.*793T>C
ENST00000315285.9:c.1133T>C MANE Select	ENSP00000320885.3:p.Leu378Pro
ENST00000621856.2:c.1130T>C	ENSP00000482496.2:p.Leu377Pro
ENST00000642281.1:c.983-9581T>C
ENST00000642455.1:c.1034T>C	ENSP00000493827.1:p.Leu345Pro
ENST00000642751.1:c.907T>C
ENST00000642999.1:c.875T>C	ENSP00000496589.1:p.Leu292Pro
ENST00000643327.1:c.292T>C
ENST00000643334.1:c.713T>C
ENST00000644408.1:c.1009T>C
ENST00000644954.1:c.779T>C	ENSP00000494312.1:p.Leu260Pro
ENST00000645159.1:n.485T>C
ENST00000645550.1:n.346T>C
ENST00000645671.1:c.583T>C
ENST00000645730.1:c.480T>C
ENST00000646082.1:c.779T>C
ENST00000646571.1:c.1037T>C	ENSP00000495015.1:p.Leu346Pro
ENST00000647007.1:n.825T>C
ENST00000647133.1:c.674-1426T>C
ENST00000315285.7:c.1133T>C	ENSP00000320885.3:p.Leu378Pro
ENST00000345662.5:c.1037T>C	ENSP00000340817.1:p.Leu346Pro
ENST00000615843.4:c.1133T>C	ENSP00000480893.1:p.Leu378Pro
ENST00000621856.1:c.875T>C	ENSP00000482496.1:p.Leu292Pro
NM_014946.3:c.1133T>C , LRG_714t1:c.1133T>C	NP_055761.2:p.Leu378Pro
NM_199436.1:c.1037T>C	NP_955468.1:p.Leu346Pro
XM_005264516.3:c.1130T>C	XP_005264573.1:p.Leu377Pro
XM_011533067.1:c.1133T>C	XP_011531369.1:p.Leu378Pro
NM_001363823.1:c.1130T>C	NP_001350752.1:p.Leu377Pro
NM_001363875.1:c.1034T>C	NP_001350804.1:p.Leu345Pro
XM_005264516.5:c.1130T>C	XP_005264573.1:p.Leu377Pro
XM_011533067.2:c.1133T>C	XP_011531369.1:p.Leu378Pro
XM_017004778.2:c.1037T>C	XP_016860267.1:p.Leu346Pro
NM_001363823.2:c.1130T>C	NP_001350752.1:p.Leu377Pro
NM_001363875.2:c.1034T>C	NP_001350804.1:p.Leu345Pro
NM_001377959.1:c.1037T>C	NP_001364888.1:p.Leu346Pro
NM_014946.4:c.1133T>C MANE Select	NP_055761.2:p.Leu378Pro
NM_199436.2:c.1037T>C	NP_955468.1:p.Leu346Pro