Canonical Allele Identifier: CA115222

Gene: MPLKIP

Linked Data

• ClinVar Variation Id: 1844
• ClinVar RCV Id: RCV000001918 ; RCV002512662
• dbSNP Id: rs137853117
• ExAC: 7:40172768 T / C
• gnomAD v2: 7-40172768-T-C
• gnomAD v3: 7-40133169-T-C
• gnomAD v4: 7-40133169-T-C
• MyVariant Identifiers: chr7:g.40172768T>C (hg19) ; chr7:g.40133169T>C (hg38)
• PubMed: PMID:4847854 ; PMID:15645389

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.40133169T>C , CM000669.2:g.40133169T>C	GRCh38
NC_000007.13:g.40172768T>C , CM000669.1:g.40172768T>C	GRCh37
NC_000007.12:g.40139293T>C	NCBI36
NG_016989.2:g.6484A>G
NG_023422.1:g.3194T>C
NG_023422.2:g.3194T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306984.8:c.430A>G MANE Select	ENSP00000304553.5:p.Met144Val
ENST00000306984.6:c.430A>G	ENSP00000304553.5:p.Met144Val
NM_138701.3:c.430A>G	NP_619646.1:p.Met144Val
NM_138701.4:c.430A>G MANE Select	NP_619646.1:p.Met144Val