Canonical Allele Identifier: CA4229215
Gene: MPLKIP HGNC NCBI

Linked Data

dbSNP Id: rs769682526
gnomAD v2: 7-40173931-C-T
gnomAD v3: 7-40134332-C-T
gnomAD v4: 7-40134332-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.40134332C>T , CM000669.2:g.40134332C>T GRCh38
NC_000007.13:g.40173931C>T , CM000669.1:g.40173931C>T GRCh37
NC_000007.12:g.40140456C>T NCBI36
NG_016989.2:g.5321G>A
NG_023422.1:g.4357C>T
NG_023422.2:g.4357C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306984.8:c.236G>A MANE Select ENSP00000304553.5:p.Gly79Glu
ENST00000306984.6:c.236G>A ENSP00000304553.5:p.Gly79Glu
NM_138701.3:c.236G>A NP_619646.1:p.Gly79Glu
NM_138701.4:c.236G>A MANE Select NP_619646.1:p.Gly79Glu