Canonical Allele Identifier: CA580158254
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1394522300
gnomAD v2: 8-19816296-C-T
gnomAD v3: 8-19958785-C-T
gnomAD v4: 8-19958785-C-T
MyVariant Identifiers: chr8:g.19816296C>T (hg19) chr8:g.19958785C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19958785C>T , CM000670.2:g.19958785C>T GRCh38
NC_000008.10:g.19816296C>T , CM000670.1:g.19816296C>T GRCh37
NC_000008.9:g.19860576C>T NCBI36
NG_008855.1:g.24715C>T
NG_008855.2:g.62069C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1019-475C>T MANE Select ENSP00000497642.1:n.1019-475C>T
ENST00000650478.1:c.80-2116C>T ENSP00000497560.1:n.80-2116C>T
ENST00000311322.8:c.1019-475C>T ENSP00000309757.6:n.1019-475C>T
NM_000237.2:c.1019-475C>T NP_000228.1:n.1019-475C>T
NM_000237.3:c.1019-475C>T MANE Select NP_000228.1:n.1019-475C>T
Search 100 bp 5'
Search 100 bp 3'