Canonical Allele Identifier: CA4655504
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs779172858
ExAC: 8:19811837 C / T
gnomAD v2: 8-19811837-C-T
gnomAD v4: 8-19954326-C-T
COSMIC: COSM1097857
MyVariant Identifiers: chr8:g.19811837C>T (hg19) chr8:g.19954326C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954326C>T , CM000670.2:g.19954326C>T GRCh38
NC_000008.10:g.19811837C>T , CM000670.1:g.19811837C>T GRCh37
NC_000008.9:g.19856117C>T NCBI36
NG_008855.1:g.20256C>T
NG_008855.2:g.57610C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.748C>T MANE Select ENSP00000497642.1:p.Arg250Cys
ENST00000311322.8:c.748C>T ENSP00000309757.6:p.Arg250Cys
NM_000237.2:c.748C>T NP_000228.1:p.Arg250Cys
NM_000237.3:c.748C>T MANE Select NP_000228.1:p.Arg250Cys
Search 100 bp 5'
Search 100 bp 3'