Canonical Allele Identifier: CA580502366

Gene: LPL

Linked Data

• dbSNP Id: rs1340277724
• gnomAD v2: 8-19809076-T-C
• gnomAD v3: 8-19951565-T-C
• gnomAD v4: 8-19951565-T-C
• MyVariant Identifiers: chr8:g.19809076T>C (hg19) ; chr8:g.19951565T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951565T>C , CM000670.2:g.19951565T>C	GRCh38
NC_000008.10:g.19809076T>C , CM000670.1:g.19809076T>C	GRCh37
NC_000008.9:g.19853356T>C	NCBI36
NG_008855.1:g.17495T>C
NG_008855.2:g.54849T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.250-204T>C MANE Select	ENSP00000497642.1:n.250-204T>C
ENST00000311322.8:c.250-204T>C	ENSP00000309757.6:n.250-204T>C
ENST00000520959.5:c.22-204T>C	ENSP00000428496.1:n.22-204T>C
ENST00000521994.1:n.435-132T>C
ENST00000522701.5:c.250-204T>C	ENSP00000428557.1:n.250-204T>C
ENST00000524029.5:c.250-204T>C	ENSP00000428237.1:n.250-204T>C
NM_000237.2:c.250-204T>C	NP_000228.1:n.250-204T>C
NM_000237.3:c.250-204T>C MANE Select	NP_000228.1:n.250-204T>C