Canonical Allele Identifier: CA173378973
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs893355108
gnomAD v3: 8-19957607-C-T
gnomAD v4: 8-19957607-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19957607C>T , CM000670.2:g.19957607C>T GRCh38
NC_000008.10:g.19815118C>T , CM000670.1:g.19815118C>T GRCh37
NC_000008.9:g.19859398C>T NCBI36
NG_008855.1:g.23537C>T
NG_008855.2:g.60891C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1018+1524C>T MANE Select ENSP00000497642.1:n.1018+1524C>T
ENST00000650478.1:c.79+1524C>T ENSP00000497560.1:n.79+1524C>T
ENST00000311322.8:c.1018+1524C>T ENSP00000309757.6:n.1018+1524C>T
NM_000237.2:c.1018+1524C>T NP_000228.1:n.1018+1524C>T
NM_000237.3:c.1018+1524C>T MANE Select NP_000228.1:n.1018+1524C>T