Canonical Allele Identifier: CA370464594

Gene: LPL

Linked Data

• dbSNP Id: rs753472797
• gnomAD v2: 8-19796957-G-C
• gnomAD v3: 8-19939446-G-C
• gnomAD v4: 8-19939446-G-C
• MyVariant Identifiers: chr8:g.19796957G>C (hg19) ; chr8:g.19939446G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19939446G>C , CM000670.2:g.19939446G>C	GRCh38
NC_000008.10:g.19796957G>C , CM000670.1:g.19796957G>C	GRCh37
NC_000008.9:g.19841237G>C	NCBI36
NG_008855.1:g.5376G>C
NG_008855.2:g.42730G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.6G>C MANE Select	ENSP00000497642.1:p.Glu2Asp
ENST00000311322.8:c.6G>C	ENSP00000309757.6:p.Glu2Asp
ENST00000519773.1:c.6G>C	ENSP00000431028.1:p.Glu2Asp
ENST00000520959.5:c.-140-8734G>C	ENSP00000428496.1:n.-140-8734G>C
ENST00000521994.1:n.191G>C
ENST00000522701.5:c.6G>C	ENSP00000428557.1:p.Glu2Asp
ENST00000523696.1:n.75G>C
ENST00000524029.5:c.6G>C	ENSP00000428237.1:p.Glu2Asp
NM_000237.2:c.6G>C	NP_000228.1:p.Glu2Asp
NM_000237.3:c.6G>C MANE Select	NP_000228.1:p.Glu2Asp