Canonical Allele Identifier: CA370468603
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs571478179
gnomAD v3: 8-19954288-G-C
gnomAD v4: 8-19954288-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954288G>C , CM000670.2:g.19954288G>C GRCh38
NC_000008.10:g.19811799G>C , CM000670.1:g.19811799G>C GRCh37
NC_000008.9:g.19856079G>C NCBI36
NG_008855.1:g.20218G>C
NG_008855.2:g.57572G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.710G>C MANE Select ENSP00000497642.1:p.Gly237Ala
ENST00000311322.8:c.710G>C ENSP00000309757.6:p.Gly237Ala
NM_000237.2:c.710G>C NP_000228.1:p.Gly237Ala
NM_000237.3:c.710G>C MANE Select NP_000228.1:p.Gly237Ala