Canonical Allele Identifier: CA370469136
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1265039955
gnomAD v2: 8-19813448-G-T
gnomAD v4: 8-19955937-G-T
MyVariant Identifiers: chr8:g.19813448G>T (hg19) chr8:g.19955937G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955937G>T , CM000670.2:g.19955937G>T GRCh38
NC_000008.10:g.19813448G>T , CM000670.1:g.19813448G>T GRCh37
NC_000008.9:g.19857728G>T NCBI36
NG_008855.1:g.21867G>T
NG_008855.2:g.59221G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.872G>T MANE Select ENSP00000497642.1:p.Cys291Phe
ENST00000311322.8:c.872G>T ENSP00000309757.6:p.Cys291Phe
NM_000237.2:c.872G>T NP_000228.1:p.Cys291Phe
NM_000237.3:c.872G>T MANE Select NP_000228.1:p.Cys291Phe
Search 100 bp 5'
Search 100 bp 3'