Canonical Allele Identifier: CA367308554
Gene: MPLKIP HGNC NCBI

Linked Data

ClinVar Variation Id: 1940818
ClinVar RCV Id: RCV002658592
gnomAD v4: 7-40134432-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.40134432C>G , CM000669.2:g.40134432C>G GRCh38
NC_000007.13:g.40174031C>G , CM000669.1:g.40174031C>G GRCh37
NC_000007.12:g.40140556C>G NCBI36
NG_016989.2:g.5221G>C
NG_023422.1:g.4457C>G
NG_023422.2:g.4457C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000306984.8:c.136G>C MANE Select ENSP00000304553.5:p.Gly46Arg
ENST00000306984.6:c.136G>C ENSP00000304553.5:p.Gly46Arg
NM_138701.3:c.136G>C NP_619646.1:p.Gly46Arg
NM_138701.4:c.136G>C MANE Select NP_619646.1:p.Gly46Arg