Canonical Allele Identifier: CA425446603
Gene: SPAST HGNC NCBI

Linked Data

gnomAD v4: 2-32126989-C-G
MyVariant Identifiers: chr2:g.32352058C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32126989C>G , CM000664.2:g.32126989C>G GRCh38
NC_000002.11:g.32352058C>G , CM000664.1:g.32352058C>G GRCh37
NC_000002.10:g.32205562C>G NCBI36
NG_008730.1:g.68379C>G , LRG_714:g.68379C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*800C>G ENSP00000515816.1:n.*800C>G
ENST00000315285.9:c.1140C>G MANE Select ENSP00000320885.3:p.Leu380=
ENST00000621856.2:c.1137C>G ENSP00000482496.2:p.Leu379=
ENST00000642281.1:c.983-9574C>G
ENST00000642455.1:c.1041C>G ENSP00000493827.1:p.Leu347=
ENST00000642751.1:c.914C>G
ENST00000642999.1:c.882C>G ENSP00000496589.1:p.Leu294=
ENST00000643327.1:c.299C>G
ENST00000643334.1:c.720C>G
ENST00000644408.1:c.1016C>G
ENST00000644954.1:c.786C>G ENSP00000494312.1:p.Leu262=
ENST00000645159.1:n.492C>G
ENST00000645550.1:n.353C>G
ENST00000645671.1:c.590C>G
ENST00000645730.1:c.487C>G
ENST00000646082.1:c.786C>G
ENST00000646571.1:c.1044C>G ENSP00000495015.1:p.Leu348=
ENST00000647007.1:n.832C>G
ENST00000647133.1:c.674-1419C>G
ENST00000315285.7:c.1140C>G ENSP00000320885.3:p.Leu380=
ENST00000345662.5:c.1044C>G ENSP00000340817.1:p.Leu348=
ENST00000615843.4:c.1140C>G ENSP00000480893.1:p.Leu380=
ENST00000621856.1:c.882C>G ENSP00000482496.1:p.Leu294=
NM_014946.3:c.1140C>G , LRG_714t1:c.1140C>G NP_055761.2:p.Leu380=
NM_199436.1:c.1044C>G NP_955468.1:p.Leu348=
XM_005264516.3:c.1137C>G XP_005264573.1:p.Leu379=
XM_011533067.1:c.1140C>G XP_011531369.1:p.Leu380=
NM_001363823.1:c.1137C>G NP_001350752.1:p.Leu379=
NM_001363875.1:c.1041C>G NP_001350804.1:p.Leu347=
XM_005264516.5:c.1137C>G XP_005264573.1:p.Leu379=
XM_011533067.2:c.1140C>G XP_011531369.1:p.Leu380=
XM_017004778.2:c.1044C>G XP_016860267.1:p.Leu348=
NM_001363823.2:c.1137C>G NP_001350752.1:p.Leu379=
NM_001363875.2:c.1041C>G NP_001350804.1:p.Leu347=
NM_001377959.1:c.1044C>G NP_001364888.1:p.Leu348=
NM_014946.4:c.1140C>G MANE Select NP_055761.2:p.Leu380=
NM_199436.2:c.1044C>G NP_955468.1:p.Leu348=