Canonical Allele Identifier: CA370468483
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19954230-G-C
MyVariant Identifiers: chr8:g.19811741G>C (hg19) chr8:g.19954230G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954230G>C , CM000670.2:g.19954230G>C GRCh38
NC_000008.10:g.19811741G>C , CM000670.1:g.19811741G>C GRCh37
NC_000008.9:g.19856021G>C NCBI36
NG_008855.1:g.20160G>C
NG_008855.2:g.57514G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.652G>C MANE Select ENSP00000497642.1:p.Gly218Arg
ENST00000311322.8:c.652G>C ENSP00000309757.6:p.Gly218Arg
NM_000237.2:c.652G>C NP_000228.1:p.Gly218Arg
NM_000237.3:c.652G>C MANE Select NP_000228.1:p.Gly218Arg
Search 100 bp 5'
Search 100 bp 3'