Canonical Allele Identifier: CA173370830
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs987163761
gnomAD v3: 8-19939313-C-T
gnomAD v4: 8-19939313-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19939313C>T , CM000670.2:g.19939313C>T GRCh38
NC_000008.10:g.19796824C>T , CM000670.1:g.19796824C>T GRCh37
NC_000008.9:g.19841104C>T NCBI36
NG_008855.1:g.5243C>T
NG_008855.2:g.42597C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.-128C>T MANE Select ENSP00000497642.1:n.-128C>T
ENST00000311322.8:c.-128C>T ENSP00000309757.6:n.-128C>T
ENST00000519773.1:c.-128C>T ENSP00000431028.1:n.-128C>T
ENST00000520959.5:c.-140-8867C>T ENSP00000428496.1:n.-140-8867C>T
ENST00000521994.1:n.58C>T
ENST00000522701.5:c.-128C>T ENSP00000428557.1:n.-128C>T
ENST00000524029.5:c.-128C>T ENSP00000428237.1:n.-128C>T
NM_000237.2:c.-128C>T NP_000228.1:n.-128C>T
NM_000237.3:c.-128C>T MANE Select NP_000228.1:n.-128C>T