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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:
CA360508096
Gene: LNPEP
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr5:g.96350711C>A (hg19)
chr5:g.97015007C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.97015007C>A , CM000667.2:g.97015007C>A
GRCh38
NC_000005.9:g.96350711C>A , CM000667.1:g.96350711C>A
GRCh37
NC_000005.8:g.96376467C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000231368.10:c.2288C>A
MANE Select
ENSP00000231368.5:p.Ala763Glu
ENST00000231368.9:c.2288C>A
ENSP00000231368.5:p.Ala763Glu
ENST00000395770.3:c.2246C>A
ENSP00000379117.3:p.Ala749Glu
NM_005575.2:c.2288C>A
NP_005566.2:p.Ala763Glu
NM_175920.3:c.2246C>A
NP_787116.2:p.Ala749Glu
XM_024446045.1:c.2288C>A
XP_024301813.1:p.Ala763Glu
NM_005575.3:c.2288C>A
MANE Select
NP_005566.2:p.Ala763Glu
NM_175920.4:c.2246C>A
NP_787116.2:p.Ala749Glu
Search 100 bp 5'
Search 100 bp 3'