Canonical Allele Identifier: CA4655318
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1801177
gnomAD v2: 8-19805708-G-C
gnomAD v3: 8-19948197-G-C
gnomAD v4: 8-19948197-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19948197G>C , CM000670.2:g.19948197G>C GRCh38
NC_000008.10:g.19805708G>C , CM000670.1:g.19805708G>C GRCh37
NC_000008.9:g.19849988G>C NCBI36
NG_008855.1:g.14127G>C
NG_008855.2:g.51481G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.106G>C MANE Select ENSP00000497642.1:p.Asp36His
ENST00000311322.8:c.106G>C ENSP00000309757.6:p.Asp36His
ENST00000519773.1:c.*143G>C ENSP00000431028.1:n.*143G>C
ENST00000520959.5:c.-123G>C ENSP00000428496.1:n.-123G>C
ENST00000521994.1:n.291G>C
ENST00000522701.5:c.106G>C ENSP00000428557.1:p.Asp36His
ENST00000523696.1:n.175G>C
ENST00000524029.5:c.106G>C ENSP00000428237.1:p.Asp36His
NM_000237.2:c.106G>C NP_000228.1:p.Asp36His
NM_000237.3:c.106G>C MANE Select NP_000228.1:p.Asp36His