Canonical Allele Identifier: CA128812
Gene: MAGT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 29982
ClinVar RCV Id: RCV000022874 RCV000489605
dbSNP Id: rs387906724
COSMIC: COSM1125526 COSM1599804
MyVariant Identifiers: chrX:g.77126382G>A (hg19) chrX:g.77870885G>A (hg38)
PubMed: PMID:21796205
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77870885G>A , CM000685.2:g.77870885G>A GRCh38
NC_000023.10:g.77126382G>A , CM000685.1:g.77126382G>A GRCh37
NC_000023.9:g.77013038G>A NCBI36
NG_016390.1:g.29684C>T , LRG_353:g.29684C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000358075.11:c.313C>T ENSP00000354649.6:p.Arg105Ter
ENST00000685002.1:n.340C>T
ENST00000685015.1:c.313C>T ENSP00000509969.1:p.Arg105Ter
ENST00000685353.1:c.313C>T ENSP00000510266.1:p.Arg105Ter
ENST00000688650.1:c.313C>T ENSP00000509785.1:p.Arg105Ter
ENST00000689137.1:c.211C>T ENSP00000509458.1:p.Arg71Ter
ENST00000689519.1:c.313C>T ENSP00000509887.1:p.Arg105Ter
ENST00000691172.1:c.211C>T ENSP00000508529.1:p.Arg71Ter
ENST00000691993.1:c.409C>T ENSP00000509067.1:p.Arg137Ter
ENST00000692161.1:c.313C>T ENSP00000509676.1:p.Arg105Ter
ENST00000618282.5:c.313C>T MANE Select ENSP00000480732.1:p.Arg105Ter
ENST00000358075.10:c.409C>T ENSP00000354649.5:p.Arg137Ter
ENST00000373336.3:c.313C>T ENSP00000362433.3:p.Arg105Ter
ENST00000476168.1:n.327C>T
ENST00000610432.4:c.409C>T ENSP00000478379.1:p.Arg137Ter
ENST00000618282.4:c.313C>T ENSP00000480732.1:p.Arg105Ter
NM_032121.5:c.409C>T , LRG_353t1:c.409C>T NP_115497.4:p.Arg137Ter
NM_001367916.1:c.313C>T MANE Select NP_001354845.1:p.Arg105Ter
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