Canonical Allele Identifier: CA173617947
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1029880660
gnomAD v2: 8-19818138-A-C
gnomAD v3: 8-19960627-A-C
gnomAD v4: 8-19960627-A-C
MyVariant Identifiers: chr8:g.19818138A>C (hg19) chr8:g.19960627A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19960627A>C , CM000670.2:g.19960627A>C GRCh38
NC_000008.10:g.19818138A>C , CM000670.1:g.19818138A>C GRCh37
NC_000008.9:g.19862418A>C NCBI36
NG_008855.1:g.26557A>C
NG_008855.2:g.63911A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1140-274A>C MANE Select ENSP00000497642.1:n.1140-274A>C
ENST00000650478.1:c.80-274A>C ENSP00000497560.1:n.80-274A>C
ENST00000311322.8:c.1140-274A>C ENSP00000309757.6:n.1140-274A>C
NM_000237.2:c.1140-274A>C NP_000228.1:n.1140-274A>C
NM_000237.3:c.1140-274A>C MANE Select NP_000228.1:n.1140-274A>C
Search 100 bp 5'
Search 100 bp 3'