Canonical Allele Identifier: CA278813
Gene: MIP HGNC NCBI

Linked Data

ClinVar Variation Id: 217342
dbSNP Id: rs864309693
COSMIC: COSM941691

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56454517G>A , CM000674.2:g.56454517G>A GRCh38
NC_000012.11:g.56848301G>A , CM000674.1:g.56848301G>A GRCh37
NC_000012.10:g.55134568G>A NCBI36
NG_021397.1:g.5135C>T
NG_021397.2:g.19650C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000648304.1:c.183-762C>T ENSP00000497190.1:n.183-762C>T
ENST00000648442.1:n.494-762C>T
ENST00000650166.1:n.250-762C>T
ENST00000652304.1:c.97C>T MANE Select ENSP00000498622.1:p.Arg33Cys
ENST00000257979.4:c.97C>T ENSP00000257979.4:p.Arg33Cys
ENST00000555551.1:n.317-762C>T
NM_012064.3:c.97C>T NP_036196.1:p.Arg33Cys
XM_011538354.1:c.76-762C>T XP_011536656.1:n.76-762C>T
NM_012064.4:c.97C>T MANE Select NP_036196.1:p.Arg33Cys