Canonical Allele Identifier: CA370469286
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19956002-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19956002C>G , CM000670.2:g.19956002C>G GRCh38
NC_000008.10:g.19813513C>G , CM000670.1:g.19813513C>G GRCh37
NC_000008.9:g.19857793C>G NCBI36
NG_008855.1:g.21932C>G
NG_008855.2:g.59286C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.937C>G MANE Select ENSP00000497642.1:p.Leu313Val
ENST00000311322.8:c.937C>G ENSP00000309757.6:p.Leu313Val
NM_000237.2:c.937C>G NP_000228.1:p.Leu313Val
NM_000237.3:c.937C>G MANE Select NP_000228.1:p.Leu313Val