Canonical Allele Identifier: CA370468486
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19954231-G-C
MyVariant Identifiers: chr8:g.19811742G>C (hg19) chr8:g.19954231G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954231G>C , CM000670.2:g.19954231G>C GRCh38
NC_000008.10:g.19811742G>C , CM000670.1:g.19811742G>C GRCh37
NC_000008.9:g.19856022G>C NCBI36
NG_008855.1:g.20161G>C
NG_008855.2:g.57515G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.653G>C MANE Select ENSP00000497642.1:p.Gly218Ala
ENST00000311322.8:c.653G>C ENSP00000309757.6:p.Gly218Ala
NM_000237.2:c.653G>C NP_000228.1:p.Gly218Ala
NM_000237.3:c.653G>C MANE Select NP_000228.1:p.Gly218Ala
Search 100 bp 5'
Search 100 bp 3'