Canonical Allele Identifier: CA346501321

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32352078G>C (hg19) ; chr2:g.32127009G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127009G>C , CM000664.2:g.32127009G>C	GRCh38
NC_000002.11:g.32352078G>C , CM000664.1:g.32352078G>C	GRCh37
NC_000002.10:g.32205582G>C	NCBI36
NG_008730.1:g.68399G>C , LRG_714:g.68399G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*820G>C	ENSP00000515816.1:n.*820G>C
ENST00000315285.9:c.1160G>C MANE Select	ENSP00000320885.3:p.Gly387Ala
ENST00000621856.2:c.1157G>C	ENSP00000482496.2:p.Gly386Ala
ENST00000642281.1:c.983-9554G>C
ENST00000642455.1:c.1061G>C	ENSP00000493827.1:p.Gly354Ala
ENST00000642751.1:c.934G>C
ENST00000642999.1:c.902G>C	ENSP00000496589.1:p.Gly301Ala
ENST00000643327.1:c.319G>C
ENST00000643334.1:c.740G>C
ENST00000644408.1:c.1036G>C
ENST00000644954.1:c.806G>C	ENSP00000494312.1:p.Gly269Ala
ENST00000645159.1:n.512G>C
ENST00000645550.1:n.373G>C
ENST00000645671.1:c.610G>C
ENST00000645730.1:c.507G>C
ENST00000646082.1:c.806G>C
ENST00000646571.1:c.1064G>C	ENSP00000495015.1:p.Gly355Ala
ENST00000647007.1:n.852G>C
ENST00000647133.1:c.674-1399G>C
ENST00000315285.7:c.1160G>C	ENSP00000320885.3:p.Gly387Ala
ENST00000345662.5:c.1064G>C	ENSP00000340817.1:p.Gly355Ala
ENST00000615843.4:c.1160G>C	ENSP00000480893.1:p.Gly387Ala
ENST00000621856.1:c.902G>C	ENSP00000482496.1:p.Gly301Ala
NM_014946.3:c.1160G>C , LRG_714t1:c.1160G>C	NP_055761.2:p.Gly387Ala
NM_199436.1:c.1064G>C	NP_955468.1:p.Gly355Ala
XM_005264516.3:c.1157G>C	XP_005264573.1:p.Gly386Ala
XM_011533067.1:c.1160G>C	XP_011531369.1:p.Gly387Ala
NM_001363823.1:c.1157G>C	NP_001350752.1:p.Gly386Ala
NM_001363875.1:c.1061G>C	NP_001350804.1:p.Gly354Ala
XM_005264516.5:c.1157G>C	XP_005264573.1:p.Gly386Ala
XM_011533067.2:c.1160G>C	XP_011531369.1:p.Gly387Ala
XM_017004778.2:c.1064G>C	XP_016860267.1:p.Gly355Ala
NM_001363823.2:c.1157G>C	NP_001350752.1:p.Gly386Ala
NM_001363875.2:c.1061G>C	NP_001350804.1:p.Gly354Ala
NM_001377959.1:c.1064G>C	NP_001364888.1:p.Gly355Ala
NM_014946.4:c.1160G>C MANE Select	NP_055761.2:p.Gly387Ala
NM_199436.2:c.1064G>C	NP_955468.1:p.Gly355Ala