Canonical Allele Identifier: CA370468411
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19954195-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954195T>C , CM000670.2:g.19954195T>C GRCh38
NC_000008.10:g.19811706T>C , CM000670.1:g.19811706T>C GRCh37
NC_000008.9:g.19855986T>C NCBI36
NG_008855.1:g.20125T>C
NG_008855.2:g.57479T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.617T>C MANE Select ENSP00000497642.1:p.Val206Ala
ENST00000311322.8:c.617T>C ENSP00000309757.6:p.Val206Ala
NM_000237.2:c.617T>C NP_000228.1:p.Val206Ala
NM_000237.3:c.617T>C MANE Select NP_000228.1:p.Val206Ala