Canonical Allele Identifier: CA580209102
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1362231153
gnomAD v2: 8-19820411-A-T
gnomAD v3: 8-19962900-A-T
gnomAD v4: 8-19962900-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19962900A>T , CM000670.2:g.19962900A>T GRCh38
NC_000008.10:g.19820411A>T , CM000670.1:g.19820411A>T GRCh37
NC_000008.9:g.19864691A>T NCBI36
NG_008855.1:g.28830A>T
NG_008855.2:g.66184A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1427+681A>T MANE Select ENSP00000497642.1:n.1427+681A>T
ENST00000650478.1:c.367+681A>T ENSP00000497560.1:n.367+681A>T
ENST00000311322.8:c.1427+681A>T ENSP00000309757.6:n.1427+681A>T
NM_000237.2:c.1427+681A>T NP_000228.1:n.1427+681A>T
NM_000237.3:c.1427+681A>T MANE Select NP_000228.1:n.1427+681A>T