Canonical Allele Identifier: CA173376185

Gene: LPL

Linked Data

• dbSNP Id: rs929110988
• gnomAD v2: 8-19809040-C-T
• gnomAD v3: 8-19951529-C-T
• gnomAD v4: 8-19951529-C-T
• MyVariant Identifiers: chr8:g.19809040C>T (hg19) ; chr8:g.19951529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951529C>T , CM000670.2:g.19951529C>T	GRCh38
NC_000008.10:g.19809040C>T , CM000670.1:g.19809040C>T	GRCh37
NC_000008.9:g.19853320C>T	NCBI36
NG_008855.1:g.17459C>T
NG_008855.2:g.54813C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.250-240C>T MANE Select	ENSP00000497642.1:n.250-240C>T
ENST00000311322.8:c.250-240C>T	ENSP00000309757.6:n.250-240C>T
ENST00000520959.5:c.22-240C>T	ENSP00000428496.1:n.22-240C>T
ENST00000521994.1:n.435-168C>T
ENST00000522701.5:c.250-240C>T	ENSP00000428557.1:n.250-240C>T
ENST00000524029.5:c.250-240C>T	ENSP00000428237.1:n.250-240C>T
NM_000237.2:c.250-240C>T	NP_000228.1:n.250-240C>T
NM_000237.3:c.250-240C>T MANE Select	NP_000228.1:n.250-240C>T