Canonical Allele Identifier: CA173377753
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs954056546
gnomAD v2: 8-19812108-G-A
gnomAD v3: 8-19954597-G-A
gnomAD v4: 8-19954597-G-A
MyVariant Identifiers: chr8:g.19812108G>A (hg19) chr8:g.19954597G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954597G>A , CM000670.2:g.19954597G>A GRCh38
NC_000008.10:g.19812108G>A , CM000670.1:g.19812108G>A GRCh37
NC_000008.9:g.19856388G>A NCBI36
NG_008855.1:g.20527G>A
NG_008855.2:g.57881G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.775+244G>A MANE Select ENSP00000497642.1:n.775+244G>A
ENST00000311322.8:c.775+244G>A ENSP00000309757.6:n.775+244G>A
NM_000237.2:c.775+244G>A NP_000228.1:n.775+244G>A
NM_000237.3:c.775+244G>A MANE Select NP_000228.1:n.775+244G>A
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