Canonical Allele Identifier: CA10630551
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 362400
ClinVar RCV Id: RCV000383605 RCV001513132
dbSNP Id: rs146978295
gnomAD v2: 8-19796776-T-TCC
gnomAD v3: 8-19939265-T-TCC
gnomAD v4: 8-19939265-T-TCC
MyVariant Identifiers: chr8:g.19796780_19796781dupCC (hg19) chr8:g.19796776_19796777insCC (hg19) chr8:g.19939269_19939270dupCC (hg38) chr8:g.19939265_19939266insCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19939269_19939270dup , CM000670.2:g.19939269_19939270dup GRCh38
NC_000008.10:g.19796780_19796781dup , CM000670.1:g.19796780_19796781dup GRCh37
NC_000008.9:g.19841060_19841061dup NCBI36
NG_008855.1:g.5199_5200dup
NG_008855.2:g.42553_42554dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.-172_-171dup MANE Select ENSP00000497642.1:n.-172_-171dup
ENST00000311322.8:c.-172_-171dup ENSP00000309757.6:n.-172_-171dup
ENST00000519773.1:c.-172_-171dup ENSP00000431028.1:n.-172_-171dup
ENST00000520959.5:c.-140-8911_-140-8910dup ENSP00000428496.1:n.-140-8911_-140-8910dup
ENST00000521994.1:n.14_15dup
ENST00000522701.5:c.-172_-171dup ENSP00000428557.1:n.-172_-171dup
ENST00000524029.5:c.-153-19_-153-18dup ENSP00000428237.1:n.-153-19_-153-18dup
NM_000237.2:c.-172_-171dup NP_000228.1:n.-172_-171dup
NM_000237.3:c.-172_-171dup MANE Select NP_000228.1:n.-172_-171dup
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