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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:
CA10602402
Gene: LPL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226449
ClinVar RCV Id:
RCV000258506
dbSNP Id:
rs886037774
MyVariant Identifiers:
chr8:g.19813504T>C (hg19)
chr8:g.19955993T>C (hg38)
PubMed:
PMID:28548960
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.19955993T>C , CM000670.2:g.19955993T>C
GRCh38
NC_000008.10:g.19813504T>C , CM000670.1:g.19813504T>C
GRCh37
NC_000008.9:g.19857784T>C
NCBI36
NG_008855.1:g.21923T>C
NG_008855.2:g.59277T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000650287.1:c.928T>C
MANE Select
ENSP00000497642.1:p.Cys310Arg
ENST00000311322.8:c.928T>C
ENSP00000309757.6:p.Cys310Arg
NM_000237.2:c.928T>C
NP_000228.1:p.Cys310Arg
NM_000237.3:c.928T>C
MANE Select
NP_000228.1:p.Cys310Arg
Search 100 bp 5'
Search 100 bp 3'