Canonical Allele Identifier: CA4655492
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs747598008
ExAC: 8:19811772 G / C
gnomAD v2: 8-19811772-G-C
gnomAD v3: 8-19954261-G-C
gnomAD v4: 8-19954261-G-C
MyVariant Identifiers: chr8:g.19811772G>C (hg19) chr8:g.19954261G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954261G>C , CM000670.2:g.19954261G>C GRCh38
NC_000008.10:g.19811772G>C , CM000670.1:g.19811772G>C GRCh37
NC_000008.9:g.19856052G>C NCBI36
NG_008855.1:g.20191G>C
NG_008855.2:g.57545G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.683G>C MANE Select ENSP00000497642.1:p.Gly228Ala
ENST00000311322.8:c.683G>C ENSP00000309757.6:p.Gly228Ala
NM_000237.2:c.683G>C NP_000228.1:p.Gly228Ala
NM_000237.3:c.683G>C MANE Select NP_000228.1:p.Gly228Ala
Search 100 bp 5'
Search 100 bp 3'