Canonical Allele Identifier: CA367308600
Gene: MPLKIP HGNC NCBI

Linked Data

dbSNP Id: rs1326175149
gnomAD v3: 7-40134441-C-G
gnomAD v4: 7-40134441-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.40134441C>G , CM000669.2:g.40134441C>G GRCh38
NC_000007.13:g.40174040C>G , CM000669.1:g.40174040C>G GRCh37
NC_000007.12:g.40140565C>G NCBI36
NG_016989.2:g.5212G>C
NG_023422.1:g.4466C>G
NG_023422.2:g.4466C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306984.8:c.127G>C MANE Select ENSP00000304553.5:p.Asp43His
ENST00000306984.6:c.127G>C ENSP00000304553.5:p.Asp43His
NM_138701.3:c.127G>C NP_619646.1:p.Asp43His
NM_138701.4:c.127G>C MANE Select NP_619646.1:p.Asp43His