Canonical Allele Identifier: CA580157406
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1236320537
gnomAD v2: 8-19811573-C-T
gnomAD v3: 8-19954062-C-T
gnomAD v4: 8-19954062-C-T
MyVariant Identifiers: chr8:g.19811573C>T (hg19) chr8:g.19954062C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954062C>T , CM000670.2:g.19954062C>T GRCh38
NC_000008.10:g.19811573C>T , CM000670.1:g.19811573C>T GRCh37
NC_000008.9:g.19855853C>T NCBI36
NG_008855.1:g.19992C>T
NG_008855.2:g.57346C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.542-58C>T MANE Select ENSP00000497642.1:n.542-58C>T
ENST00000311322.8:c.542-58C>T ENSP00000309757.6:n.542-58C>T
ENST00000520959.5:c.314-58C>T ENSP00000428496.1:n.314-58C>T
NM_000237.2:c.542-58C>T NP_000228.1:n.542-58C>T
NM_000237.3:c.542-58C>T MANE Select NP_000228.1:n.542-58C>T
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