Canonical Allele Identifier: CA4655469

Gene: LPL

Linked Data

• ClinVar Variation Id: 1090605
• ClinVar RCV Id: RCV001409791 ; RCV002350784
• dbSNP Id: rs756368813
• ExAC: 8:19811644 T / C
• gnomAD v2: 8-19811644-T-C
• gnomAD v3: 8-19954133-T-C
• gnomAD v4: 8-19954133-T-C
• MyVariant Identifiers: chr8:g.19811644T>C (hg19) ; chr8:g.19954133T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19954133T>C , CM000670.2:g.19954133T>C	GRCh38
NC_000008.10:g.19811644T>C , CM000670.1:g.19811644T>C	GRCh37
NC_000008.9:g.19855924T>C	NCBI36
NG_008855.1:g.20063T>C
NG_008855.2:g.57417T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.555T>C MANE Select	ENSP00000497642.1:p.Ala185=
ENST00000311322.8:c.555T>C	ENSP00000309757.6:p.Ala185=
ENST00000520959.5:c.327T>C	ENSP00000428496.1:p.Ala109=
NM_000237.2:c.555T>C	NP_000228.1:p.Ala185=
NM_000237.3:c.555T>C MANE Select	NP_000228.1:p.Ala185=