Canonical Allele Identifier: CA370469269
Gene: LPL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955995C>G , CM000670.2:g.19955995C>G GRCh38
NC_000008.10:g.19813506C>G , CM000670.1:g.19813506C>G GRCh37
NC_000008.9:g.19857786C>G NCBI36
NG_008855.1:g.21925C>G
NG_008855.2:g.59279C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.930C>G MANE Select ENSP00000497642.1:p.Cys310Trp
ENST00000311322.8:c.930C>G ENSP00000309757.6:p.Cys310Trp
NM_000237.2:c.930C>G NP_000228.1:p.Cys310Trp
NM_000237.3:c.930C>G MANE Select NP_000228.1:p.Cys310Trp