Canonical Allele Identifier: CA401758214
Gene: MIB1 HGNC NCBI

Linked Data

dbSNP Id: rs1215788921
gnomAD v2: 18-19395692-C-T
gnomAD v3: 18-21815731-C-T
gnomAD v4: 18-21815731-C-T
MyVariant Identifiers: chr18:g.19395692C>T (hg19) chr18:g.21815731C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.21815731C>T , CM000680.2:g.21815731C>T GRCh38
NC_000018.9:g.19395692C>T , CM000680.1:g.19395692C>T GRCh37
NC_000018.8:g.17649690C>T NCBI36
NG_033272.2:g.115775C>T , LRG_759:g.115775C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261537.7:c.1595C>T MANE Select ENSP00000261537.6:p.Thr532Ile
ENST00000261537.6:c.1595C>T ENSP00000261537.6:p.Thr532Ile
ENST00000577749.5:n.580C>T
ENST00000578260.1:n.398C>T
ENST00000578646.5:n.1572C>T
NM_020774.3:c.1595C>T , LRG_759t1:c.1595C>T NP_065825.1:p.Thr532Ile
XM_011526098.1:c.125C>T XP_011524400.1:p.Thr42Ile
XM_017025873.1:c.1079C>T XP_016881362.1:p.Thr360Ile
NM_020774.4:c.1595C>T MANE Select NP_065825.1:p.Thr532Ile
Search 100 bp 5'
Search 100 bp 3'