Canonical Allele Identifier: CA370467546
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19951838-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951838A>C , CM000670.2:g.19951838A>C GRCh38
NC_000008.10:g.19809349A>C , CM000670.1:g.19809349A>C GRCh37
NC_000008.9:g.19853629A>C NCBI36
NG_008855.1:g.17768A>C
NG_008855.2:g.55122A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.319A>C MANE Select ENSP00000497642.1:p.Asn107His
ENST00000311322.8:c.319A>C ENSP00000309757.6:p.Asn107His
ENST00000520959.5:c.91A>C ENSP00000428496.1:p.Asn31His
ENST00000524029.5:c.319A>C ENSP00000428237.1:p.Asn107His
NM_000237.2:c.319A>C NP_000228.1:p.Asn107His
NM_000237.3:c.319A>C MANE Select NP_000228.1:p.Asn107His