Canonical Allele Identifier: CA370468453
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 2136642
ClinVar RCV Id: RCV003062154
dbSNP Id: rs1194544354
gnomAD v3: 8-19954215-A-G
gnomAD v4: 8-19954215-A-G
MyVariant Identifiers: chr8:g.19811726A>G (hg19) chr8:g.19954215A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954215A>G , CM000670.2:g.19954215A>G GRCh38
NC_000008.10:g.19811726A>G , CM000670.1:g.19811726A>G GRCh37
NC_000008.9:g.19856006A>G NCBI36
NG_008855.1:g.20145A>G
NG_008855.2:g.57499A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.637A>G MANE Select ENSP00000497642.1:p.Thr213Ala
ENST00000311322.8:c.637A>G ENSP00000309757.6:p.Thr213Ala
NM_000237.2:c.637A>G NP_000228.1:p.Thr213Ala
NM_000237.3:c.637A>G MANE Select NP_000228.1:p.Thr213Ala
Search 100 bp 5'
Search 100 bp 3'