Canonical Allele Identifier: CA401758191

Gene: MIB1

Linked Data

• gnomAD v4: 18-21815727-C-T
• MyVariant Identifiers: chr18:g.19395688C>T (hg19) ; chr18:g.21815727C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.21815727C>T , CM000680.2:g.21815727C>T	GRCh38
NC_000018.9:g.19395688C>T , CM000680.1:g.19395688C>T	GRCh37
NC_000018.8:g.17649686C>T	NCBI36
NG_033272.2:g.115771C>T , LRG_759:g.115771C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261537.7:c.1591C>T MANE Select	ENSP00000261537.6:p.Gln531Ter
ENST00000261537.6:c.1591C>T	ENSP00000261537.6:p.Gln531Ter
ENST00000577749.5:n.576C>T
ENST00000578260.1:n.394C>T
ENST00000578646.5:n.1568C>T
NM_020774.3:c.1591C>T , LRG_759t1:c.1591C>T	NP_065825.1:p.Gln531Ter
XM_011526098.1:c.121C>T	XP_011524400.1:p.Gln41Ter
XM_017025873.1:c.1075C>T	XP_016881362.1:p.Gln359Ter
NM_020774.4:c.1591C>T MANE Select	NP_065825.1:p.Gln531Ter