Canonical Allele Identifier: CA354090

Gene: MPLKIP

Linked Data

• ClinVar Variation Id: 224867
• ClinVar RCV Id: RCV000210474
• dbSNP Id: rs869312900
• gnomAD v2: 7-40173827-C-T
• gnomAD v4: 7-40134228-C-T
• MyVariant Identifiers: chr7:g.40173827C>T (hg19) ; chr7:g.40134228C>T (hg38)
• PubMed: PMID:24824130 ; PMID:26880286

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.40134228C>T , CM000669.2:g.40134228C>T	GRCh38
NC_000007.13:g.40173827C>T , CM000669.1:g.40173827C>T	GRCh37
NC_000007.12:g.40140352C>T	NCBI36
NG_016989.2:g.5425G>A
NG_023422.1:g.4253C>T
NG_023422.2:g.4253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306984.8:c.339+1G>A MANE Select	ENSP00000304553.5:n.339+1G>A
ENST00000306984.6:c.339+1G>A	ENSP00000304553.5:n.339+1G>A
NM_138701.3:c.339+1G>A	NP_619646.1:n.339+1G>A
NM_138701.4:c.339+1G>A MANE Select	NP_619646.1:n.339+1G>A