Canonical Allele Identifier: CA370468360
Gene: LPL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954171T>A , CM000670.2:g.19954171T>A GRCh38
NC_000008.10:g.19811682T>A , CM000670.1:g.19811682T>A GRCh37
NC_000008.9:g.19855962T>A NCBI36
NG_008855.1:g.20101T>A
NG_008855.2:g.57455T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.593T>A MANE Select ENSP00000497642.1:p.Leu198His
ENST00000311322.8:c.593T>A ENSP00000309757.6:p.Leu198His
NM_000237.2:c.593T>A NP_000228.1:p.Leu198His
NM_000237.3:c.593T>A MANE Select NP_000228.1:p.Leu198His