Canonical Allele Identifier: CA367308149
Gene: MPLKIP HGNC NCBI

Linked Data

dbSNP Id: rs1291344374
gnomAD v2: 7-40173938-G-A
gnomAD v3: 7-40134339-G-A
gnomAD v4: 7-40134339-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.40134339G>A , CM000669.2:g.40134339G>A GRCh38
NC_000007.13:g.40173938G>A , CM000669.1:g.40173938G>A GRCh37
NC_000007.12:g.40140463G>A NCBI36
NG_016989.2:g.5314C>T
NG_023422.1:g.4364G>A
NG_023422.2:g.4364G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000306984.8:c.229C>T MANE Select ENSP00000304553.5:p.Arg77Trp
ENST00000306984.6:c.229C>T ENSP00000304553.5:p.Arg77Trp
NM_138701.3:c.229C>T NP_619646.1:p.Arg77Trp
NM_138701.4:c.229C>T MANE Select NP_619646.1:p.Arg77Trp