Canonical Allele Identifier: CA173378075
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs188225797
gnomAD v3: 8-19955535-G-C
gnomAD v4: 8-19955535-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955535G>C , CM000670.2:g.19955535G>C GRCh38
NC_000008.10:g.19813046G>C , CM000670.1:g.19813046G>C GRCh37
NC_000008.9:g.19857326G>C NCBI36
NG_008855.1:g.21465G>C
NG_008855.2:g.58819G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.776-306G>C MANE Select ENSP00000497642.1:n.776-306G>C
ENST00000311322.8:c.776-306G>C ENSP00000309757.6:n.776-306G>C
NM_000237.2:c.776-306G>C NP_000228.1:n.776-306G>C
NM_000237.3:c.776-306G>C MANE Select NP_000228.1:n.776-306G>C