Canonical Allele Identifier: CA173618052
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19961675G>C
GRCh37 chr8:g.19819186G>C
gnomAD v2:
8:19819186 G / C
gnomAD v3:
8:19961675 G / C
gnomAD v4:
chr8-19961675-G-C
Joint Max Group AF 0.00886569 (AFR)
Genomes Max Group AF 0.00886569 (AFR)
dbSNP:
321
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19961675G>C , CM000670.2:g.19961675G>C GRCh38
NC_000008.10:g.19819186G>C , CM000670.1:g.19819186G>C GRCh37
NC_000008.9:g.19863466G>C NCBI36
NG_008855.1:g.27605G>C
NG_008855.2:g.64959G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1323-440G>C MANE Select ENSP00000497642.1:n.1323-440G>C
ENST00000650478.1:c.263-440G>C ENSP00000497560.1:n.263-440G>C
ENST00000311322.8:c.1323-440G>C ENSP00000309757.6:n.1323-440G>C
NM_000237.2:c.1323-440G>C NP_000228.1:n.1323-440G>C
NM_000237.3:c.1323-440G>C MANE Select NP_000228.1:n.1323-440G>C
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