Canonical Allele Identifier: CA2686358310

Gene: LPL

Linked Data

• gnomAD v4: 8-19951548-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19951548C>T , CM000670.2:g.19951548C>T	GRCh38
NC_000008.10:g.19809059C>T , CM000670.1:g.19809059C>T	GRCh37
NC_000008.9:g.19853339C>T	NCBI36
NG_008855.1:g.17478C>T
NG_008855.2:g.54832C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.250-221C>T MANE Select	ENSP00000497642.1:n.250-221C>T
ENST00000311322.8:c.250-221C>T	ENSP00000309757.6:n.250-221C>T
ENST00000520959.5:c.22-221C>T	ENSP00000428496.1:n.22-221C>T
ENST00000521994.1:n.435-149C>T
ENST00000522701.5:c.250-221C>T	ENSP00000428557.1:n.250-221C>T
ENST00000524029.5:c.250-221C>T	ENSP00000428237.1:n.250-221C>T
NM_000237.2:c.250-221C>T	NP_000228.1:n.250-221C>T
NM_000237.3:c.250-221C>T MANE Select	NP_000228.1:n.250-221C>T