Canonical Allele Identifier: CA370638618
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19960950-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19960950G>A , CM000670.2:g.19960950G>A GRCh38
NC_000008.10:g.19818461G>A , CM000670.1:g.19818461G>A GRCh37
NC_000008.9:g.19862741G>A NCBI36
NG_008855.1:g.26880G>A
NG_008855.2:g.64234G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1189G>A MANE Select ENSP00000497642.1:p.Val397Ile
ENST00000650478.1:c.129G>A ENSP00000497560.1:n.129G>A
ENST00000311322.8:c.1189G>A ENSP00000309757.6:p.Val397Ile
NM_000237.2:c.1189G>A NP_000228.1:p.Val397Ile
NM_000237.3:c.1189G>A MANE Select NP_000228.1:p.Val397Ile