Canonical Allele Identifier: CA12717447
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19958727A>C
GRCh37 chr8:g.19816238A>C
gnomAD v2:
8:19816238 A / C
gnomAD v3:
8:19958727 A / C
gnomAD v4:
chr8-19958727-A-C
Joint Max Group AF 0.36846943 (AFR)
Genomes Max Group AF 0.36846943 (AFR)
dbSNP:
295
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19958727A>C , CM000670.2:g.19958727A>C GRCh38
NC_000008.10:g.19816238A>C , CM000670.1:g.19816238A>C GRCh37
NC_000008.9:g.19860518A>C NCBI36
NG_008855.1:g.24657A>C
NG_008855.2:g.62011A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1019-533A>C MANE Select ENSP00000497642.1:n.1019-533A>C
ENST00000650478.1:c.80-2174A>C ENSP00000497560.1:n.80-2174A>C
ENST00000311322.8:c.1019-533A>C ENSP00000309757.6:n.1019-533A>C
NM_000237.2:c.1019-533A>C NP_000228.1:n.1019-533A>C
NM_000237.3:c.1019-533A>C MANE Select NP_000228.1:n.1019-533A>C
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