Canonical Allele Identifier: CA346501257

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32352048G>C (hg19) ; chr2:g.32126979G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126979G>C , CM000664.2:g.32126979G>C	GRCh38
NC_000002.11:g.32352048G>C , CM000664.1:g.32352048G>C	GRCh37
NC_000002.10:g.32205552G>C	NCBI36
NG_008730.1:g.68369G>C , LRG_714:g.68369G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*790G>C	ENSP00000515816.1:n.*790G>C
ENST00000315285.9:c.1130G>C MANE Select	ENSP00000320885.3:p.Gly377Ala
ENST00000621856.2:c.1127G>C	ENSP00000482496.2:p.Gly376Ala
ENST00000642281.1:c.983-9584G>C
ENST00000642455.1:c.1031G>C	ENSP00000493827.1:p.Gly344Ala
ENST00000642751.1:c.904G>C
ENST00000642999.1:c.872G>C	ENSP00000496589.1:p.Gly291Ala
ENST00000643327.1:c.289G>C
ENST00000643334.1:c.710G>C
ENST00000644408.1:c.1006G>C
ENST00000644954.1:c.776G>C	ENSP00000494312.1:p.Gly259Ala
ENST00000645159.1:n.482G>C
ENST00000645550.1:n.343G>C
ENST00000645671.1:c.580G>C
ENST00000645730.1:c.477G>C
ENST00000646082.1:c.776G>C
ENST00000646571.1:c.1034G>C	ENSP00000495015.1:p.Gly345Ala
ENST00000647007.1:n.822G>C
ENST00000647133.1:c.674-1429G>C
ENST00000315285.7:c.1130G>C	ENSP00000320885.3:p.Gly377Ala
ENST00000345662.5:c.1034G>C	ENSP00000340817.1:p.Gly345Ala
ENST00000615843.4:c.1130G>C	ENSP00000480893.1:p.Gly377Ala
ENST00000621856.1:c.872G>C	ENSP00000482496.1:p.Gly291Ala
NM_014946.3:c.1130G>C , LRG_714t1:c.1130G>C	NP_055761.2:p.Gly377Ala
NM_199436.1:c.1034G>C	NP_955468.1:p.Gly345Ala
XM_005264516.3:c.1127G>C	XP_005264573.1:p.Gly376Ala
XM_011533067.1:c.1130G>C	XP_011531369.1:p.Gly377Ala
NM_001363823.1:c.1127G>C	NP_001350752.1:p.Gly376Ala
NM_001363875.1:c.1031G>C	NP_001350804.1:p.Gly344Ala
XM_005264516.5:c.1127G>C	XP_005264573.1:p.Gly376Ala
XM_011533067.2:c.1130G>C	XP_011531369.1:p.Gly377Ala
XM_017004778.2:c.1034G>C	XP_016860267.1:p.Gly345Ala
NM_001363823.2:c.1127G>C	NP_001350752.1:p.Gly376Ala
NM_001363875.2:c.1031G>C	NP_001350804.1:p.Gly344Ala
NM_001377959.1:c.1034G>C	NP_001364888.1:p.Gly345Ala
NM_014946.4:c.1130G>C MANE Select	NP_055761.2:p.Gly377Ala
NM_199436.2:c.1034G>C	NP_955468.1:p.Gly345Ala