Canonical Allele Identifier: CA173379536
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs192934442
gnomAD v2: 8-19816286-A-C
gnomAD v3: 8-19958775-A-C
gnomAD v4: 8-19958775-A-C
MyVariant Identifiers: chr8:g.19816286A>C (hg19) chr8:g.19958775A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19958775A>C , CM000670.2:g.19958775A>C GRCh38
NC_000008.10:g.19816286A>C , CM000670.1:g.19816286A>C GRCh37
NC_000008.9:g.19860566A>C NCBI36
NG_008855.1:g.24705A>C
NG_008855.2:g.62059A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1019-485A>C MANE Select ENSP00000497642.1:n.1019-485A>C
ENST00000650478.1:c.80-2126A>C ENSP00000497560.1:n.80-2126A>C
ENST00000311322.8:c.1019-485A>C ENSP00000309757.6:n.1019-485A>C
NM_000237.2:c.1019-485A>C NP_000228.1:n.1019-485A>C
NM_000237.3:c.1019-485A>C MANE Select NP_000228.1:n.1019-485A>C
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