Canonical Allele Identifier: CA580158080
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1347445420
gnomAD v2: 8-19815047-T-C
gnomAD v3: 8-19957536-T-C
gnomAD v4: 8-19957536-T-C
MyVariant Identifiers: chr8:g.19815047T>C (hg19) chr8:g.19957536T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19957536T>C , CM000670.2:g.19957536T>C GRCh38
NC_000008.10:g.19815047T>C , CM000670.1:g.19815047T>C GRCh37
NC_000008.9:g.19859327T>C NCBI36
NG_008855.1:g.23466T>C
NG_008855.2:g.60820T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1018+1453T>C MANE Select ENSP00000497642.1:n.1018+1453T>C
ENST00000650478.1:c.79+1453T>C ENSP00000497560.1:n.79+1453T>C
ENST00000311322.8:c.1018+1453T>C ENSP00000309757.6:n.1018+1453T>C
NM_000237.2:c.1018+1453T>C NP_000228.1:n.1018+1453T>C
NM_000237.3:c.1018+1453T>C MANE Select NP_000228.1:n.1018+1453T>C
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