Canonical Allele Identifier: CA4229230
Gene: MPLKIP HGNC NCBI

Linked Data

dbSNP Id: rs751554073
gnomAD v2: 7-40174031-C-A
gnomAD v4: 7-40134432-C-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000306984.8:c.136G>T MANE Select ENSP00000304553.5:p.Gly46Trp
ENST00000306984.6:c.136G>T ENSP00000304553.5:p.Gly46Trp
NM_138701.3:c.136G>T NP_619646.1:p.Gly46Trp
NM_138701.4:c.136G>T MANE Select NP_619646.1:p.Gly46Trp