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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:
CA367308551
Gene: MPLKIP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2609496
ClinVar RCV Id:
RCV003362098
dbSNP Id:
rs764264973
gnomAD v2:
7-40174030-C-T
gnomAD v4:
7-40134431-C-T
MyVariant Identifiers:
chr7:g.40174030C>T (hg19)
chr7:g.40134431C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.40134431C>T , CM000669.2:g.40134431C>T
GRCh38
NC_000007.13:g.40174030C>T , CM000669.1:g.40174030C>T
GRCh37
NC_000007.12:g.40140555C>T
NCBI36
NG_016989.2:g.5222G>A
NG_023422.1:g.4456C>T
NG_023422.2:g.4456C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000306984.8:c.137G>A
MANE Select
ENSP00000304553.5:p.Gly46Glu
ENST00000306984.6:c.137G>A
ENSP00000304553.5:p.Gly46Glu
NM_138701.3:c.137G>A
NP_619646.1:p.Gly46Glu
NM_138701.4:c.137G>A
MANE Select
NP_619646.1:p.Gly46Glu
Search 100 bp 5'
Search 100 bp 3'