Canonical Allele Identifier: CA367308123
Gene: MPLKIP HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000306984.8:c.236G>C MANE Select ENSP00000304553.5:p.Gly79Ala
ENST00000306984.6:c.236G>C ENSP00000304553.5:p.Gly79Ala
NM_138701.3:c.236G>C NP_619646.1:p.Gly79Ala
NM_138701.4:c.236G>C MANE Select NP_619646.1:p.Gly79Ala