Canonical Allele Identifier: CA4655380

Gene: LPL

Linked Data

• dbSNP Id: rs769624687
• ExAC: 8:19809341 C / G
• gnomAD v2: 8-19809341-C-G
• gnomAD v4: 8-19951830-C-G
• MyVariant Identifiers: chr8:g.19809341C>G (hg19) ; chr8:g.19951830C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951830C>G , CM000670.2:g.19951830C>G	GRCh38
NC_000008.10:g.19809341C>G , CM000670.1:g.19809341C>G	GRCh37
NC_000008.9:g.19853621C>G	NCBI36
NG_008855.1:g.17760C>G
NG_008855.2:g.55114C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.311C>G MANE Select	ENSP00000497642.1:p.Pro104Arg
ENST00000311322.8:c.311C>G	ENSP00000309757.6:p.Pro104Arg
ENST00000520959.5:c.83C>G	ENSP00000428496.1:p.Pro28Arg
ENST00000522701.5:c.311C>G	ENSP00000428557.1:p.Pro104Arg
ENST00000524029.5:c.311C>G	ENSP00000428237.1:p.Pro104Arg
NM_000237.2:c.311C>G	NP_000228.1:p.Pro104Arg
NM_000237.3:c.311C>G MANE Select	NP_000228.1:p.Pro104Arg