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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:
CA370468322
Gene: LPL
HGNC
NCBI
Linked Data
dbSNP Id:
rs1455481950
gnomAD v2:
8-19811663-G-A
gnomAD v4:
8-19954152-G-A
MyVariant Identifiers:
chr8:g.19811663G>A (hg19)
chr8:g.19954152G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.19954152G>A , CM000670.2:g.19954152G>A
GRCh38
NC_000008.10:g.19811663G>A , CM000670.1:g.19811663G>A
GRCh37
NC_000008.9:g.19855943G>A
NCBI36
NG_008855.1:g.20082G>A
NG_008855.2:g.57436G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000650287.1:c.574G>A
MANE Select
ENSP00000497642.1:p.Ala192Thr
ENST00000311322.8:c.574G>A
ENSP00000309757.6:p.Ala192Thr
NM_000237.2:c.574G>A
NP_000228.1:p.Ala192Thr
NM_000237.3:c.574G>A
MANE Select
NP_000228.1:p.Ala192Thr
Search 100 bp 5'
Search 100 bp 3'