Canonical Allele Identifier: CA370467400

Gene: LPL

Linked Data

• gnomAD v4: 8-19951793-G-C
• MyVariant Identifiers: chr8:g.19809304G>C (hg19) ; chr8:g.19951793G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951793G>C , CM000670.2:g.19951793G>C	GRCh38
NC_000008.10:g.19809304G>C , CM000670.1:g.19809304G>C	GRCh37
NC_000008.9:g.19853584G>C	NCBI36
NG_008855.1:g.17723G>C
NG_008855.2:g.55077G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.274G>C MANE Select	ENSP00000497642.1:p.Val92Leu
ENST00000311322.8:c.274G>C	ENSP00000309757.6:p.Val92Leu
ENST00000520959.5:c.46G>C	ENSP00000428496.1:p.Val16Leu
ENST00000521994.1:n.531G>C
ENST00000522701.5:c.274G>C	ENSP00000428557.1:p.Val92Leu
ENST00000524029.5:c.274G>C	ENSP00000428237.1:p.Val92Leu
NM_000237.2:c.274G>C	NP_000228.1:p.Val92Leu
NM_000237.3:c.274G>C MANE Select	NP_000228.1:p.Val92Leu