Canonical Allele Identifier: CA370638654
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1156454170
gnomAD v4: 8-19960968-C-G
MyVariant Identifiers: chr8:g.19818479C>G (hg19) chr8:g.19960968C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19960968C>G , CM000670.2:g.19960968C>G GRCh38
NC_000008.10:g.19818479C>G , CM000670.1:g.19818479C>G GRCh37
NC_000008.9:g.19862759C>G NCBI36
NG_008855.1:g.26898C>G
NG_008855.2:g.64252C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1207C>G MANE Select ENSP00000497642.1:p.Leu403Val
ENST00000650478.1:c.147C>G ENSP00000497560.1:n.147C>G
ENST00000311322.8:c.1207C>G ENSP00000309757.6:p.Leu403Val
NM_000237.2:c.1207C>G NP_000228.1:p.Leu403Val
NM_000237.3:c.1207C>G MANE Select NP_000228.1:p.Leu403Val
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