Canonical Allele Identifier: CA251862
Gene: LPL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1524
ClinVar RCV Id: RCV000001588
dbSNP Id: rs118204058

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951916C>T , CM000670.2:g.19951916C>T GRCh38
NC_000008.10:g.19809427C>T , CM000670.1:g.19809427C>T GRCh37
NC_000008.9:g.19853707C>T NCBI36
NG_008855.1:g.17846C>T

Transcript Alleles

HGVS Amino-acid change
NM_000237.2:c.397C>T VV NP_000228.1:p.Gln133Ter
NM_000237.3:c.397C>T VV
ENST00000311322.8:c.397C>T ENSP00000309757.6:p.Gln133Ter
ENST00000520959.5:c.169C>T ENSP00000428496.1:p.Gln57Ter