Canonical Allele Identifier: CA849556908

Gene: LPL

Linked Data

• dbSNP Id: rs1184617019
• gnomAD v3: 8-19951584-C-T
• gnomAD v4: 8-19951584-C-T
• MyVariant Identifiers: chr8:g.19809095C>T (hg19) ; chr8:g.19951584C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951584C>T , CM000670.2:g.19951584C>T	GRCh38
NC_000008.10:g.19809095C>T , CM000670.1:g.19809095C>T	GRCh37
NC_000008.9:g.19853375C>T	NCBI36
NG_008855.1:g.17514C>T
NG_008855.2:g.54868C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.250-185C>T MANE Select	ENSP00000497642.1:n.250-185C>T
ENST00000311322.8:c.250-185C>T	ENSP00000309757.6:n.250-185C>T
ENST00000520959.5:c.22-185C>T	ENSP00000428496.1:n.22-185C>T
ENST00000521994.1:n.435-113C>T
ENST00000522701.5:c.250-185C>T	ENSP00000428557.1:n.250-185C>T
ENST00000524029.5:c.250-185C>T	ENSP00000428237.1:n.250-185C>T
NM_000237.2:c.250-185C>T	NP_000228.1:n.250-185C>T
NM_000237.3:c.250-185C>T MANE Select	NP_000228.1:n.250-185C>T