Canonical Allele Identifier: CA1111569227
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs775041849
gnomAD v3: 8-19939390-C-T
gnomAD v4: 8-19939390-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19939390C>T , CM000670.2:g.19939390C>T GRCh38
NC_000008.10:g.19796901C>T , CM000670.1:g.19796901C>T GRCh37
NC_000008.9:g.19841181C>T NCBI36
NG_008855.1:g.5320C>T
NG_008855.2:g.42674C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.-51C>T MANE Select ENSP00000497642.1:n.-51C>T
ENST00000311322.8:c.-51C>T ENSP00000309757.6:n.-51C>T
ENST00000519773.1:c.-51C>T ENSP00000431028.1:n.-51C>T
ENST00000520959.5:c.-140-8790C>T ENSP00000428496.1:n.-140-8790C>T
ENST00000521994.1:n.135C>T
ENST00000522701.5:c.-51C>T ENSP00000428557.1:n.-51C>T
ENST00000523696.1:n.19C>T
ENST00000524029.5:c.-51C>T ENSP00000428237.1:n.-51C>T
NM_000237.2:c.-51C>T NP_000228.1:n.-51C>T
NM_000237.3:c.-51C>T MANE Select NP_000228.1:n.-51C>T