Canonical Allele Identifier: CA1111555669
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2070031141
gnomAD v3: 8-19960768-T-C
gnomAD v4: 8-19960768-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19960768T>C , CM000670.2:g.19960768T>C GRCh38
NC_000008.10:g.19818279T>C , CM000670.1:g.19818279T>C GRCh37
NC_000008.9:g.19862559T>C NCBI36
NG_008855.1:g.26698T>C
NG_008855.2:g.64052T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1140-133T>C MANE Select ENSP00000497642.1:n.1140-133T>C
ENST00000650478.1:c.80-133T>C ENSP00000497560.1:n.80-133T>C
ENST00000311322.8:c.1140-133T>C ENSP00000309757.6:n.1140-133T>C
NM_000237.2:c.1140-133T>C NP_000228.1:n.1140-133T>C
NM_000237.3:c.1140-133T>C MANE Select NP_000228.1:n.1140-133T>C