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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA367308554
Gene: MPLKIP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1940818
ClinVar RCV Id:
RCV002658592
gnomAD v4:
7-40134432-C-G
MyVariant Identifiers:
chr7:g.40174031C>G (hg19)
chr7:g.40134432C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.40134432C>G , CM000669.2:g.40134432C>G
GRCh38
NC_000007.13:g.40174031C>G , CM000669.1:g.40174031C>G
GRCh37
NC_000007.12:g.40140556C>G
NCBI36
NG_016989.2:g.5221G>C
NG_023422.1:g.4457C>G
NG_023422.2:g.4457C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000306984.8:c.136G>C
MANE Select
ENSP00000304553.5:p.Gly46Arg
ENST00000306984.6:c.136G>C
ENSP00000304553.5:p.Gly46Arg
NM_138701.3:c.136G>C
NP_619646.1:p.Gly46Arg
NM_138701.4:c.136G>C
MANE Select
NP_619646.1:p.Gly46Arg
Search 100 bp 5'
Search 100 bp 3'