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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:
CA251890
Gene: LPL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1553
ClinVar RCV Id:
RCV000001618
dbSNP Id:
rs118204079
MyVariant Identifiers:
chr8:g.19819637G>A (hg19)
chr8:g.19962126G>A (hg38)
PubMed:
PMID:7818530
PMID:8858123
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.19962126G>A , CM000670.2:g.19962126G>A
GRCh38
NC_000008.10:g.19819637G>A , CM000670.1:g.19819637G>A
GRCh37
NC_000008.9:g.19863917G>A
NCBI36
NG_008855.1:g.28056G>A
NG_008855.2:g.65410G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000650287.1:c.1334G>A
MANE Select
ENSP00000497642.1:p.Cys445Tyr
ENST00000650478.1:c.274G>A
ENSP00000497560.1:n.274G>A
ENST00000311322.8:c.1334G>A
ENSP00000309757.6:p.Cys445Tyr
NM_000237.2:c.1334G>A
NP_000228.1:p.Cys445Tyr
NM_000237.3:c.1334G>A
MANE Select
NP_000228.1:p.Cys445Tyr
Search 100 bp 5'
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