Canonical Allele Identifier: CA2658529301

Gene: SPAST

Linked Data

• gnomAD v4: 2-32137129-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137130dup , CM000664.2:g.32137130dup	GRCh38
NC_000002.11:g.32362199dup , CM000664.1:g.32362199dup	GRCh37
NC_000002.10:g.32215703dup	NCBI36
NG_008730.1:g.78520dup , LRG_714:g.78520dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1095dup	ENSP00000515816.1:n.*1095dup
ENST00000315285.9:c.1435dup MANE Select	ENSP00000320885.3:p.Arg479LysfsTer9
ENST00000621856.2:c.1432dup	ENSP00000482496.2:p.Arg478LysfsTer9
ENST00000642281.1:c.1172dup
ENST00000642455.1:c.1336dup	ENSP00000493827.1:p.Arg446LysfsTer9
ENST00000642751.1:c.1209dup
ENST00000642999.1:c.1177dup	ENSP00000496589.1:p.Arg393LysfsTer9
ENST00000643327.1:c.502dup
ENST00000643334.1:c.1015dup
ENST00000644408.1:c.1311dup
ENST00000644954.1:c.1081dup	ENSP00000494312.1:p.Arg361LysfsTer9
ENST00000645159.1:n.2172dup
ENST00000645671.1:c.885dup
ENST00000645730.1:c.614dup
ENST00000646082.1:c.1081dup
ENST00000646571.1:c.1339dup	ENSP00000495015.1:p.Arg447LysfsTer9
ENST00000647007.1:n.1127dup
ENST00000647133.1:c.935dup
ENST00000315285.7:c.1435dup	ENSP00000320885.3:p.Arg479LysfsTer9
ENST00000345662.5:c.1339dup	ENSP00000340817.1:p.Arg447LysfsTer9
ENST00000615843.4:c.1435dup	ENSP00000480893.1:p.Arg479LysfsTer9
ENST00000621856.1:c.1177dup	ENSP00000482496.1:p.Arg393LysfsTer9
NM_014946.3:c.1435dup , LRG_714t1:c.1435dup	NP_055761.2:p.Arg479LysfsTer9
NM_199436.1:c.1339dup	NP_955468.1:p.Arg447LysfsTer9
XM_005264516.3:c.1432dup	XP_005264573.1:p.Arg478LysfsTer9
XM_011533067.1:c.1435dup	XP_011531369.1:p.Arg479LysfsTer9
NM_001363823.1:c.1432dup	NP_001350752.1:p.Arg478LysfsTer9
NM_001363875.1:c.1336dup	NP_001350804.1:p.Arg446LysfsTer9
XM_005264516.5:c.1432dup	XP_005264573.1:p.Arg478LysfsTer9
XM_011533067.2:c.1435dup	XP_011531369.1:p.Arg479LysfsTer9
XM_017004778.2:c.1339dup	XP_016860267.1:p.Arg447LysfsTer9
NM_001363823.2:c.1432dup	NP_001350752.1:p.Arg478LysfsTer9
NM_001363875.2:c.1336dup	NP_001350804.1:p.Arg446LysfsTer9
NM_001377959.1:c.1339dup	NP_001364888.1:p.Arg447LysfsTer9
NM_014946.4:c.1435dup MANE Select	NP_055761.2:p.Arg479LysfsTer9
NM_199436.2:c.1339dup	NP_955468.1:p.Arg447LysfsTer9