Canonical Allele Identifier: CA370464624

Gene: LPL

Linked Data

• gnomAD v4: 8-19939459-C-T
• MyVariant Identifiers: chr8:g.19796970C>T (hg19) ; chr8:g.19939459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19939459C>T , CM000670.2:g.19939459C>T	GRCh38
NC_000008.10:g.19796970C>T , CM000670.1:g.19796970C>T	GRCh37
NC_000008.9:g.19841250C>T	NCBI36
NG_008855.1:g.5389C>T
NG_008855.2:g.42743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.19C>T MANE Select	ENSP00000497642.1:p.Leu7Phe
ENST00000311322.8:c.19C>T	ENSP00000309757.6:p.Leu7Phe
ENST00000519773.1:c.19C>T	ENSP00000431028.1:p.Leu7Phe
ENST00000520959.5:c.-140-8721C>T	ENSP00000428496.1:n.-140-8721C>T
ENST00000521994.1:n.204C>T
ENST00000522701.5:c.19C>T	ENSP00000428557.1:p.Leu7Phe
ENST00000523696.1:n.88C>T
ENST00000524029.5:c.19C>T	ENSP00000428237.1:p.Leu7Phe
NM_000237.2:c.19C>T	NP_000228.1:p.Leu7Phe
NM_000237.3:c.19C>T MANE Select	NP_000228.1:p.Leu7Phe