Canonical Allele Identifier: CA173618188
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs541563645
gnomAD v3: 8-19962952-C-T
gnomAD v4: 8-19962952-C-T
MyVariant Identifiers: chr8:g.19820463C>T (hg19) chr8:g.19962952C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19962952C>T , CM000670.2:g.19962952C>T GRCh38
NC_000008.10:g.19820463C>T , CM000670.1:g.19820463C>T GRCh37
NC_000008.9:g.19864743C>T NCBI36
NG_008855.1:g.28882C>T
NG_008855.2:g.66236C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1427+733C>T MANE Select ENSP00000497642.1:n.1427+733C>T
ENST00000650478.1:c.367+733C>T ENSP00000497560.1:n.367+733C>T
ENST00000311322.8:c.1427+733C>T ENSP00000309757.6:n.1427+733C>T
NM_000237.2:c.1427+733C>T NP_000228.1:n.1427+733C>T
NM_000237.3:c.1427+733C>T MANE Select NP_000228.1:n.1427+733C>T
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