Canonical Allele Identifier: CA10458557
Gene: MAGT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 730694
ClinVar RCV Id: RCV002065732
dbSNP Id: rs368934480
gnomAD v2: X-77126353-T-A
gnomAD v3: X-77870856-T-A
gnomAD v4: X-77870856-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77870856T>A , CM000685.2:g.77870856T>A GRCh38
NC_000023.10:g.77126353T>A , CM000685.1:g.77126353T>A GRCh37
NC_000023.9:g.77013009T>A NCBI36
NG_016390.1:g.29713A>T , LRG_353:g.29713A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358075.11:c.342A>T ENSP00000354649.6:p.Ile114=
ENST00000685002.1:n.369A>T
ENST00000685015.1:c.342A>T ENSP00000509969.1:p.Ile114=
ENST00000685353.1:c.342A>T ENSP00000510266.1:p.Ile114=
ENST00000688650.1:c.342A>T ENSP00000509785.1:p.Ile114=
ENST00000689137.1:c.240A>T ENSP00000509458.1:p.Ile80=
ENST00000689519.1:c.342A>T ENSP00000509887.1:p.Ile114=
ENST00000691172.1:c.240A>T ENSP00000508529.1:p.Ile80=
ENST00000691993.1:c.438A>T ENSP00000509067.1:p.Ile146=
ENST00000692161.1:c.342A>T ENSP00000509676.1:p.Ile114=
ENST00000618282.5:c.342A>T MANE Select ENSP00000480732.1:p.Ile114=
ENST00000358075.10:c.438A>T ENSP00000354649.5:p.Ile146=
ENST00000373336.3:c.342A>T ENSP00000362433.3:p.Ile114=
ENST00000476168.1:n.356A>T
ENST00000610432.4:c.438A>T ENSP00000478379.1:p.Ile146=
ENST00000618282.4:c.342A>T ENSP00000480732.1:p.Ile114=
NM_032121.5:c.438A>T , LRG_353t1:c.438A>T NP_115497.4:p.Ile146=
NM_001367916.1:c.342A>T MANE Select NP_001354845.1:p.Ile114=