Canonical Allele Identifier: CA370638615

Gene: LPL

Linked Data

• COSMIC: COSM1097865
• MyVariant Identifiers: chr8:g.19818460G>T (hg19) ; chr8:g.19960949G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19960949G>T , CM000670.2:g.19960949G>T	GRCh38
NC_000008.10:g.19818460G>T , CM000670.1:g.19818460G>T	GRCh37
NC_000008.9:g.19862740G>T	NCBI36
NG_008855.1:g.26879G>T
NG_008855.2:g.64233G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.1188G>T MANE Select	ENSP00000497642.1:p.Glu396Asp
ENST00000650478.1:c.128G>T	ENSP00000497560.1:n.128G>T
ENST00000311322.8:c.1188G>T	ENSP00000309757.6:p.Glu396Asp
NM_000237.2:c.1188G>T	NP_000228.1:p.Glu396Asp
NM_000237.3:c.1188G>T MANE Select	NP_000228.1:p.Glu396Asp