Canonical Allele Identifier: CA370466791

Gene: LPL

Linked Data

• dbSNP Id: rs1801177
• gnomAD v3: 8-19948197-G-T
• gnomAD v4: 8-19948197-G-T
• MyVariant Identifiers: chr8:g.19805708G>T (hg19) ; chr8:g.19948197G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19948197G>T , CM000670.2:g.19948197G>T	GRCh38
NC_000008.10:g.19805708G>T , CM000670.1:g.19805708G>T	GRCh37
NC_000008.9:g.19849988G>T	NCBI36
NG_008855.1:g.14127G>T
NG_008855.2:g.51481G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.106G>T MANE Select	ENSP00000497642.1:p.Asp36Tyr
ENST00000311322.8:c.106G>T	ENSP00000309757.6:p.Asp36Tyr
ENST00000519773.1:c.*143G>T	ENSP00000431028.1:n.*143G>T
ENST00000520959.5:c.-123G>T	ENSP00000428496.1:n.-123G>T
ENST00000521994.1:n.291G>T
ENST00000522701.5:c.106G>T	ENSP00000428557.1:p.Asp36Tyr
ENST00000523696.1:n.175G>T
ENST00000524029.5:c.106G>T	ENSP00000428237.1:p.Asp36Tyr
NM_000237.2:c.106G>T	NP_000228.1:p.Asp36Tyr
NM_000237.3:c.106G>T MANE Select	NP_000228.1:p.Asp36Tyr