Canonical Allele Identifier: CA413714108
Community Standard Title: NM_001367916.1(MAGT1):c.49G>A (p.Ala17Thr)
Gene: MAGT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77895362C>T , CM000685.2:g.77895362C>T GRCh38
NC_000023.10:g.77150859C>T , CM000685.1:g.77150859C>T GRCh37
NC_000023.9:g.77037515C>T NCBI36
NG_016390.1:g.5207G>A , LRG_353:g.5207G>A
NG_033027.1:g.899C>T
NG_033027.2:g.899C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001367916.1:c.49G>A MANE Select NP_001354845.1:p.Ala17Thr
ENST00000618282.5:c.49G>A MANE Select ENSP00000480732.1:p.Ala17Thr
NM_032121.5:c.145G>A , LRG_353t1:c.145G>A NP_115497.4:p.Ala49Thr
ENST00000358075.10:c.145G>A ENSP00000354649.5:p.Ala49Thr
ENST00000358075.11:c.49G>A ENSP00000354649.6:p.Ala17Thr
ENST00000373336.3:c.49G>A ENSP00000362433.3:p.Ala17Thr
ENST00000476168.1:n.63G>A
ENST00000610432.4:c.145G>A ENSP00000478379.1:p.Ala49Thr
ENST00000618282.4:c.49G>A ENSP00000480732.1:p.Ala17Thr
ENST00000685002.1:n.76G>A
ENST00000685015.1:c.49G>A ENSP00000509969.1:p.Ala17Thr
ENST00000685353.1:c.49G>A ENSP00000510266.1:p.Ala17Thr
ENST00000688650.1:c.49G>A ENSP00000509785.1:p.Ala17Thr
ENST00000689137.1:c.-1+3818G>A ENSP00000509458.1:n.-1+3818G>A
ENST00000689519.1:c.49G>A ENSP00000509887.1:p.Ala17Thr
ENST00000691172.1:c.-195G>A ENSP00000508529.1:n.-195G>A
ENST00000691993.1:c.145G>A ENSP00000509067.1:p.Ala49Thr
ENST00000692161.1:c.49G>A ENSP00000509676.1:p.Ala17Thr