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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:
CA251867
Gene: LPL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1529
ClinVar RCV Id:
RCV000001593
RCV001248903
RCV001388969
RCV003298025
dbSNP Id:
rs118204061
ExAC:
8:19811751 T / C
gnomAD v2:
8-19811751-T-C
gnomAD v3:
8-19954240-T-C
gnomAD v4:
8-19954240-T-C
MyVariant Identifiers:
chr8:g.19811751T>C (hg19)
chr8:g.19954240T>C (hg38)
PubMed:
PMID:1505655
PMID:1674945
PMID:1702428
PMID:11893776
PMID:15877202
PMID:16972177
PMID:17717288
PMID:21518912
PMID:22095987
PMID:25966443
PMID:27055971
PMID:27573733
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.19954240T>C , CM000670.2:g.19954240T>C
GRCh38
NC_000008.10:g.19811751T>C , CM000670.1:g.19811751T>C
GRCh37
NC_000008.9:g.19856031T>C
NCBI36
NG_008855.1:g.20170T>C
NG_008855.2:g.57524T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000650287.1:c.662T>C
MANE Select
ENSP00000497642.1:p.Ile221Thr
ENST00000311322.8:c.662T>C
ENSP00000309757.6:p.Ile221Thr
NM_000237.2:c.662T>C
NP_000228.1:p.Ile221Thr
NM_000237.3:c.662T>C
MANE Select
NP_000228.1:p.Ile221Thr
Search 100 bp 5'
Search 100 bp 3'