Canonical Allele Identifier: CA367308551
Gene: MPLKIP HGNC NCBI

Linked Data

ClinVar Variation Id: 2609496
ClinVar RCV Id: RCV003362098
dbSNP Id: rs764264973
gnomAD v2: 7-40174030-C-T
gnomAD v4: 7-40134431-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.40134431C>T , CM000669.2:g.40134431C>T GRCh38
NC_000007.13:g.40174030C>T , CM000669.1:g.40174030C>T GRCh37
NC_000007.12:g.40140555C>T NCBI36
NG_016989.2:g.5222G>A
NG_023422.1:g.4456C>T
NG_023422.2:g.4456C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000306984.8:c.137G>A MANE Select ENSP00000304553.5:p.Gly46Glu
ENST00000306984.6:c.137G>A ENSP00000304553.5:p.Gly46Glu
NM_138701.3:c.137G>A NP_619646.1:p.Gly46Glu
NM_138701.4:c.137G>A MANE Select NP_619646.1:p.Gly46Glu