Canonical Allele Identifier: CA173377998
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs749240170
gnomAD v3: 8-19955347-T-C
gnomAD v4: 8-19955347-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955347T>C , CM000670.2:g.19955347T>C GRCh38
NC_000008.10:g.19812858T>C , CM000670.1:g.19812858T>C GRCh37
NC_000008.9:g.19857138T>C NCBI36
NG_008855.1:g.21277T>C
NG_008855.2:g.58631T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.776-494T>C MANE Select ENSP00000497642.1:n.776-494T>C
ENST00000311322.8:c.776-494T>C ENSP00000309757.6:n.776-494T>C
NM_000237.2:c.776-494T>C NP_000228.1:n.776-494T>C
NM_000237.3:c.776-494T>C MANE Select NP_000228.1:n.776-494T>C