Canonical Allele Identifier: CA4655255
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs774996291
gnomAD v2: 8-19796945-C-T
gnomAD v4: 8-19939434-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19939434C>T , CM000670.2:g.19939434C>T GRCh38
NC_000008.10:g.19796945C>T , CM000670.1:g.19796945C>T GRCh37
NC_000008.9:g.19841225C>T NCBI36
NG_008855.1:g.5364C>T
NG_008855.2:g.42718C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.-7C>T MANE Select ENSP00000497642.1:n.-7C>T
ENST00000311322.8:c.-7C>T ENSP00000309757.6:n.-7C>T
ENST00000519773.1:c.-7C>T ENSP00000431028.1:n.-7C>T
ENST00000520959.5:c.-140-8746C>T ENSP00000428496.1:n.-140-8746C>T
ENST00000521994.1:n.179C>T
ENST00000522701.5:c.-7C>T ENSP00000428557.1:n.-7C>T
ENST00000523696.1:n.63C>T
ENST00000524029.5:c.-7C>T ENSP00000428237.1:n.-7C>T
NM_000237.2:c.-7C>T NP_000228.1:n.-7C>T
NM_000237.3:c.-7C>T MANE Select NP_000228.1:n.-7C>T