×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1111552149
Gene: LPL
HGNC
NCBI
Linked Data
dbSNP Id:
rs2069974557
gnomAD v3:
8-19955335-G-GT
gnomAD v4:
8-19955335-G-GT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.19955336dup , CM000670.2:g.19955336dup
GRCh38
NC_000008.10:g.19812847dup , CM000670.1:g.19812847dup
GRCh37
NC_000008.9:g.19857127dup
NCBI36
NG_008855.1:g.21266dup
NG_008855.2:g.58620dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000650287.1:c.776-505dup
MANE Select
ENSP00000497642.1:n.776-505dup
ENST00000311322.8:c.776-505dup
ENSP00000309757.6:n.776-505dup
NM_000237.2:c.776-505dup
NP_000228.1:n.776-505dup
NM_000237.3:c.776-505dup
MANE Select
NP_000228.1:n.776-505dup
Search 100 bp 5'
Search 100 bp 3'