Canonical Allele Identifier: CA580502323
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1416098529
gnomAD v2: 8-19811653-C-CT
gnomAD v4: 8-19954142-C-CT
MyVariant Identifiers: chr8:g.19811653_19811654insT (hg19) chr8:g.19954142_19954143insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954145dup , CM000670.2:g.19954145dup GRCh38
NC_000008.10:g.19811656dup , CM000670.1:g.19811656dup GRCh37
NC_000008.9:g.19855936dup NCBI36
NG_008855.1:g.20075dup
NG_008855.2:g.57429dup

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.567dup MANE Select ENSP00000497642.1:p.Glu190Ter
ENST00000311322.8:c.567dup ENSP00000309757.6:p.Glu190Ter
ENST00000520959.5:c.339dup ENSP00000428496.1:p.Glu114Ter
NM_000237.2:c.567dup NP_000228.1:p.Glu190Ter
NM_000237.3:c.567dup MANE Select NP_000228.1:p.Glu190Ter
Search 100 bp 5'
Search 100 bp 3'