Canonical Allele Identifier: CA580209954
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1436173634
gnomAD v2: 8-19824401-C-T
gnomAD v3: 8-19966890-C-T
gnomAD v4: 8-19966890-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19966890C>T , CM000670.2:g.19966890C>T GRCh38
NC_000008.10:g.19824401C>T , CM000670.1:g.19824401C>T GRCh37
NC_000008.9:g.19868681C>T NCBI36
NG_008855.1:g.32820C>T
NG_008855.2:g.70174C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.*1580C>T MANE Select ENSP00000497642.1:n.*1580C>T
ENST00000650478.1:c.1948C>T ENSP00000497560.1:n.1948C>T
ENST00000311322.8:c.*1580C>T ENSP00000309757.6:n.*1580C>T
NM_000237.2:c.*1580C>T NP_000228.1:n.*1580C>T
NM_000237.3:c.*1580C>T MANE Select NP_000228.1:n.*1580C>T