Canonical Allele Identifier: CA4655378
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs754858152
ExAC: 8:19809333 G / T
gnomAD v2: 8-19809333-G-T
gnomAD v4: 8-19951822-G-T
COSMIC: COSM1097851
MyVariant Identifiers: chr8:g.19809333G>T (hg19) chr8:g.19951822G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951822G>T , CM000670.2:g.19951822G>T GRCh38
NC_000008.10:g.19809333G>T , CM000670.1:g.19809333G>T GRCh37
NC_000008.9:g.19853613G>T NCBI36
NG_008855.1:g.17752G>T
NG_008855.2:g.55106G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.303G>T MANE Select ENSP00000497642.1:p.Lys101Asn
ENST00000311322.8:c.303G>T ENSP00000309757.6:p.Lys101Asn
ENST00000520959.5:c.75G>T ENSP00000428496.1:p.Lys25Asn
ENST00000521994.1:n.560G>T
ENST00000522701.5:c.303G>T ENSP00000428557.1:p.Lys101Asn
ENST00000524029.5:c.303G>T ENSP00000428237.1:p.Lys101Asn
NM_000237.2:c.303G>T NP_000228.1:p.Lys101Asn
NM_000237.3:c.303G>T MANE Select NP_000228.1:p.Lys101Asn
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