Canonical Allele Identifier: CA1111569186
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2069807304
gnomAD v3: 8-19939283-T-C
gnomAD v4: 8-19939283-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19939283T>C , CM000670.2:g.19939283T>C GRCh38
NC_000008.10:g.19796794T>C , CM000670.1:g.19796794T>C GRCh37
NC_000008.9:g.19841074T>C NCBI36
NG_008855.1:g.5213T>C
NG_008855.2:g.42567T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.-158T>C MANE Select ENSP00000497642.1:n.-158T>C
ENST00000311322.8:c.-158T>C ENSP00000309757.6:n.-158T>C
ENST00000519773.1:c.-158T>C ENSP00000431028.1:n.-158T>C
ENST00000520959.5:c.-140-8897T>C ENSP00000428496.1:n.-140-8897T>C
ENST00000521994.1:n.28T>C
ENST00000522701.5:c.-158T>C ENSP00000428557.1:n.-158T>C
ENST00000524029.5:c.-153-5T>C ENSP00000428237.1:n.-153-5T>C
NM_000237.2:c.-158T>C NP_000228.1:n.-158T>C
NM_000237.3:c.-158T>C MANE Select NP_000228.1:n.-158T>C