Canonical Allele Identifier: CA251862
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19951916C>T
GRCh37 chr8:g.19809427C>T
gnomAD v2:
8:19809427 C / T
gnomAD v3:
8:19951916 C / T
gnomAD v4:
chr8-19951916-C-T
Joint Max Group AF 0.00001454 (NFE)
Exomes Max Group AF 0.0000146 (NFE)
ClinVar RCV:
RCV000001588
RCV001385518
ClinVar Variation:
1524
dbSNP:
118204058
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951916C>T , CM000670.2:g.19951916C>T GRCh38
NC_000008.10:g.19809427C>T , CM000670.1:g.19809427C>T GRCh37
NC_000008.9:g.19853707C>T NCBI36
NG_008855.1:g.17846C>T
NG_008855.2:g.55200C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.397C>T MANE Select ENSP00000497642.1:p.Gln133Ter
ENST00000311322.8:c.397C>T ENSP00000309757.6:p.Gln133Ter
ENST00000520959.5:c.169C>T ENSP00000428496.1:p.Gln57Ter
NM_000237.2:c.397C>T NP_000228.1:p.Gln133Ter
NM_000237.3:c.397C>T MANE Select NP_000228.1:p.Gln133Ter
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