Canonical Allele Identifier: CA370467390
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2662202
ClinVar RCV Id: RCV003443697

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951791G>C , CM000670.2:g.19951791G>C GRCh38
NC_000008.10:g.19809302G>C , CM000670.1:g.19809302G>C GRCh37
NC_000008.9:g.19853582G>C NCBI36
NG_008855.1:g.17721G>C
NG_008855.2:g.55075G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.272G>C MANE Select ENSP00000497642.1:p.Trp91Ser
ENST00000311322.8:c.272G>C ENSP00000309757.6:p.Trp91Ser
ENST00000520959.5:c.44G>C ENSP00000428496.1:p.Trp15Ser
ENST00000521994.1:n.529G>C
ENST00000522701.5:c.272G>C ENSP00000428557.1:p.Trp91Ser
ENST00000524029.5:c.272G>C ENSP00000428237.1:p.Trp91Ser
NM_000237.2:c.272G>C NP_000228.1:p.Trp91Ser
NM_000237.3:c.272G>C MANE Select NP_000228.1:p.Trp91Ser