Canonical Allele Identifier: CA370467606
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs775728208
gnomAD v3: 8-19951866-G-C
gnomAD v4: 8-19951866-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951866G>C , CM000670.2:g.19951866G>C GRCh38
NC_000008.10:g.19809377G>C , CM000670.1:g.19809377G>C GRCh37
NC_000008.9:g.19853657G>C NCBI36
NG_008855.1:g.17796G>C
NG_008855.2:g.55150G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.347G>C MANE Select ENSP00000497642.1:p.Arg116Pro
ENST00000311322.8:c.347G>C ENSP00000309757.6:p.Arg116Pro
ENST00000520959.5:c.119G>C ENSP00000428496.1:p.Arg40Pro
ENST00000524029.5:c.347G>C ENSP00000428237.1:p.Arg116Pro
NM_000237.2:c.347G>C NP_000228.1:p.Arg116Pro
NM_000237.3:c.347G>C MANE Select NP_000228.1:p.Arg116Pro