Canonical Allele Identifier: CA580154199

Gene: LPL

Linked Data

• dbSNP Id: rs1475724334
• gnomAD v2: 8-19796792-C-T
• gnomAD v3: 8-19939281-C-T
• gnomAD v4: 8-19939281-C-T
• MyVariant Identifiers: chr8:g.19796792C>T (hg19) ; chr8:g.19939281C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19939281C>T , CM000670.2:g.19939281C>T	GRCh38
NC_000008.10:g.19796792C>T , CM000670.1:g.19796792C>T	GRCh37
NC_000008.9:g.19841072C>T	NCBI36
NG_008855.1:g.5211C>T
NG_008855.2:g.42565C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.-160C>T MANE Select	ENSP00000497642.1:n.-160C>T
ENST00000311322.8:c.-160C>T	ENSP00000309757.6:n.-160C>T
ENST00000519773.1:c.-160C>T	ENSP00000431028.1:n.-160C>T
ENST00000520959.5:c.-140-8899C>T	ENSP00000428496.1:n.-140-8899C>T
ENST00000521994.1:n.26C>T
ENST00000522701.5:c.-160C>T	ENSP00000428557.1:n.-160C>T
ENST00000524029.5:c.-153-7C>T	ENSP00000428237.1:n.-153-7C>T
NM_000237.2:c.-160C>T	NP_000228.1:n.-160C>T
NM_000237.3:c.-160C>T MANE Select	NP_000228.1:n.-160C>T