Canonical Allele Identifier: CA4655264

Gene: LPL

Linked Data

• ClinVar Variation Id: 1735058
• ClinVar RCV Id: RCV002355177 ; RCV003094369
• dbSNP Id: rs751494597
• ExAC: 8:19796988 G / T
• gnomAD v2: 8-19796988-G-T
• gnomAD v3: 8-19939477-G-T
• gnomAD v4: 8-19939477-G-T
• MyVariant Identifiers: chr8:g.19796988G>T (hg19) ; chr8:g.19939477G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19939477G>T , CM000670.2:g.19939477G>T	GRCh38
NC_000008.10:g.19796988G>T , CM000670.1:g.19796988G>T	GRCh37
NC_000008.9:g.19841268G>T	NCBI36
NG_008855.1:g.5407G>T
NG_008855.2:g.42761G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.37G>T MANE Select	ENSP00000497642.1:p.Val13Leu
ENST00000311322.8:c.37G>T	ENSP00000309757.6:p.Val13Leu
ENST00000519773.1:c.37G>T	ENSP00000431028.1:p.Val13Leu
ENST00000520959.5:c.-140-8703G>T	ENSP00000428496.1:n.-140-8703G>T
ENST00000521994.1:n.222G>T
ENST00000522701.5:c.37G>T	ENSP00000428557.1:p.Val13Leu
ENST00000523696.1:n.106G>T
ENST00000524029.5:c.37G>T	ENSP00000428237.1:p.Val13Leu
NM_000237.2:c.37G>T	NP_000228.1:p.Val13Leu
NM_000237.3:c.37G>T MANE Select	NP_000228.1:p.Val13Leu