Canonical Allele Identifier: CA4655562
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1302175
ClinVar RCV Id: RCV001754064 RCV002386513
dbSNP Id: rs767970819
ExAC: 8:19813534 G / T
gnomAD v2: 8-19813534-G-T
gnomAD v3: 8-19956023-G-T
gnomAD v4: 8-19956023-G-T
MyVariant Identifiers: chr8:g.19813534G>T (hg19) chr8:g.19956023G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19956023G>T , CM000670.2:g.19956023G>T GRCh38
NC_000008.10:g.19813534G>T , CM000670.1:g.19813534G>T GRCh37
NC_000008.9:g.19857814G>T NCBI36
NG_008855.1:g.21953G>T
NG_008855.2:g.59307G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.958G>T MANE Select ENSP00000497642.1:p.Val320Phe
ENST00000650478.1:c.19G>T ENSP00000497560.1:p.Val7Phe
ENST00000311322.8:c.958G>T ENSP00000309757.6:p.Val320Phe
NM_000237.2:c.958G>T NP_000228.1:p.Val320Phe
NM_000237.3:c.958G>T MANE Select NP_000228.1:p.Val320Phe
Search 100 bp 5'
Search 100 bp 3'