Canonical Allele Identifier: CA229248
Gene: MAGT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10670
ClinVar RCV Id: RCV000088658
dbSNP Id: rs137852222

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77841311A>C , CM000685.2:g.77841311A>C GRCh38
NC_000023.10:g.77096808A>C , CM000685.1:g.77096808A>C GRCh37
NC_000023.9:g.76983464A>C NCBI36
NG_016390.1:g.59258T>G , LRG_353:g.59258T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000358075.11:c.836T>G ENSP00000354649.6:p.Val279Gly
ENST00000685015.1:c.836T>G ENSP00000509969.1:p.Val279Gly
ENST00000685353.1:c.746T>G ENSP00000510266.1:p.Val249Gly
ENST00000688650.1:c.746T>G ENSP00000509785.1:p.Val249Gly
ENST00000689137.1:c.734T>G ENSP00000509458.1:p.Val245Gly
ENST00000689519.1:c.836T>G ENSP00000509887.1:p.Val279Gly
ENST00000691172.1:c.734T>G ENSP00000508529.1:p.Val245Gly
ENST00000691993.1:c.932T>G ENSP00000509067.1:p.Val311Gly
ENST00000692161.1:c.554T>G ENSP00000509676.1:p.Val185Gly
ENST00000618282.5:c.836T>G MANE Select ENSP00000480732.1:p.Val279Gly
ENST00000358075.10:c.932T>G ENSP00000354649.5:p.Val311Gly
ENST00000610432.4:c.932T>G ENSP00000478379.1:p.Val311Gly
ENST00000618282.4:c.836T>G ENSP00000480732.1:p.Val279Gly
NM_032121.5:c.932T>G , LRG_353t1:c.932T>G NP_115497.4:p.Val311Gly
NM_001367916.1:c.836T>G MANE Select NP_001354845.1:p.Val279Gly