Canonical Allele Identifier: CA849560062
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1168042049
gnomAD v3: 8-19955635-T-C
gnomAD v4: 8-19955635-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955635T>C , CM000670.2:g.19955635T>C GRCh38
NC_000008.10:g.19813146T>C , CM000670.1:g.19813146T>C GRCh37
NC_000008.9:g.19857426T>C NCBI36
NG_008855.1:g.21565T>C
NG_008855.2:g.58919T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.776-206T>C MANE Select ENSP00000497642.1:n.776-206T>C
ENST00000311322.8:c.776-206T>C ENSP00000309757.6:n.776-206T>C
NM_000237.2:c.776-206T>C NP_000228.1:n.776-206T>C
NM_000237.3:c.776-206T>C MANE Select NP_000228.1:n.776-206T>C