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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:
CA367308137
Gene: MPLKIP
HGNC
NCBI
Linked Data
gnomAD v4:
7-40134336-A-G
MyVariant Identifiers:
chr7:g.40173935A>G (hg19)
chr7:g.40134336A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.40134336A>G , CM000669.2:g.40134336A>G
GRCh38
NC_000007.13:g.40173935A>G , CM000669.1:g.40173935A>G
GRCh37
NC_000007.12:g.40140460A>G
NCBI36
NG_016989.2:g.5317T>C
NG_023422.1:g.4361A>G
NG_023422.2:g.4361A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000306984.8:c.232T>C
MANE Select
ENSP00000304553.5:p.Phe78Leu
ENST00000306984.6:c.232T>C
ENSP00000304553.5:p.Phe78Leu
NM_138701.3:c.232T>C
NP_619646.1:p.Phe78Leu
NM_138701.4:c.232T>C
MANE Select
NP_619646.1:p.Phe78Leu
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