Canonical Allele Identifier: CA4655494

Gene: LPL

Linked Data

• ClinVar Variation Id: 742198
• ClinVar RCV Id: RCV000918427 ; RCV001162186 ; RCV002363371 ; RCV003330996 ; RCV003923256
• dbSNP Id: rs45607438
• ExAC: 8:19811776 T / C
• gnomAD v2: 8-19811776-T-C
• gnomAD v3: 8-19954265-T-C
• gnomAD v4: 8-19954265-T-C
• MyVariant Identifiers: chr8:g.19811776T>C (hg19) ; chr8:g.19954265T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19954265T>C , CM000670.2:g.19954265T>C	GRCh38
NC_000008.10:g.19811776T>C , CM000670.1:g.19811776T>C	GRCh37
NC_000008.9:g.19856056T>C	NCBI36
NG_008855.1:g.20195T>C
NG_008855.2:g.57549T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.687T>C MANE Select	ENSP00000497642.1:p.His229=
ENST00000311322.8:c.687T>C	ENSP00000309757.6:p.His229=
NM_000237.2:c.687T>C	NP_000228.1:p.His229=
NM_000237.3:c.687T>C MANE Select	NP_000228.1:p.His229=