Canonical Allele Identifier: CA580156943
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1449247206
gnomAD v2: 8-19809665-T-C
gnomAD v3: 8-19952154-T-C
gnomAD v4: 8-19952154-T-C
COSMIC: COSN16366850
MyVariant Identifiers: chr8:g.19809665T>C (hg19) chr8:g.19952154T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19952154T>C , CM000670.2:g.19952154T>C GRCh38
NC_000008.10:g.19809665T>C , CM000670.1:g.19809665T>C GRCh37
NC_000008.9:g.19853945T>C NCBI36
NG_008855.1:g.18084T>C
NG_008855.2:g.55438T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.429+206T>C MANE Select ENSP00000497642.1:n.429+206T>C
ENST00000311322.8:c.429+206T>C ENSP00000309757.6:n.429+206T>C
ENST00000520959.5:c.201+206T>C ENSP00000428496.1:n.201+206T>C
NM_000237.2:c.429+206T>C NP_000228.1:n.429+206T>C
NM_000237.3:c.429+206T>C MANE Select NP_000228.1:n.429+206T>C
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