Canonical Allele Identifier: CA367308152
Gene: MPLKIP HGNC NCBI

Linked Data

ClinVar Variation Id: 1964738
ClinVar RCV Id: RCV002721584
gnomAD v4: 7-40134341-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.40134341C>A , CM000669.2:g.40134341C>A GRCh38
NC_000007.13:g.40173940C>A , CM000669.1:g.40173940C>A GRCh37
NC_000007.12:g.40140465C>A NCBI36
NG_016989.2:g.5312G>T
NG_023422.1:g.4366C>A
NG_023422.2:g.4366C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306984.8:c.227G>T MANE Select ENSP00000304553.5:p.Gly76Val
ENST00000306984.6:c.227G>T ENSP00000304553.5:p.Gly76Val
NM_138701.3:c.227G>T NP_619646.1:p.Gly76Val
NM_138701.4:c.227G>T MANE Select NP_619646.1:p.Gly76Val