Canonical Allele Identifier: CA2543416253
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19967057-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19967057C>A , CM000670.2:g.19967057C>A GRCh38
NC_000008.10:g.19824568C>A , CM000670.1:g.19824568C>A GRCh37
NC_000008.9:g.19868848C>A NCBI36
NG_008855.1:g.32987C>A
NG_008855.2:g.70341C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.*1747C>A MANE Select ENSP00000497642.1:n.*1747C>A
ENST00000650478.1:c.2115C>A ENSP00000497560.1:n.2115C>A
ENST00000311322.8:c.*1747C>A ENSP00000309757.6:n.*1747C>A
NM_000237.2:c.*1747C>A NP_000228.1:n.*1747C>A
NM_000237.3:c.*1747C>A MANE Select NP_000228.1:n.*1747C>A