Canonical Allele Identifier: CA370469174
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19955954-T-C
MyVariant Identifiers: chr8:g.19813465T>C (hg19) chr8:g.19955954T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955954T>C , CM000670.2:g.19955954T>C GRCh38
NC_000008.10:g.19813465T>C , CM000670.1:g.19813465T>C GRCh37
NC_000008.9:g.19857745T>C NCBI36
NG_008855.1:g.21884T>C
NG_008855.2:g.59238T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.889T>C MANE Select ENSP00000497642.1:p.Phe297Leu
ENST00000311322.8:c.889T>C ENSP00000309757.6:p.Phe297Leu
NM_000237.2:c.889T>C NP_000228.1:p.Phe297Leu
NM_000237.3:c.889T>C MANE Select NP_000228.1:p.Phe297Leu
Search 100 bp 5'
Search 100 bp 3'