Canonical Allele Identifier: CA4655663
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs761714988
ExAC: 8:19818437 T / C
gnomAD v2: 8-19818437-T-C
gnomAD v4: 8-19960926-T-C
MyVariant Identifiers: chr8:g.19818437T>C (hg19) chr8:g.19960926T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19960926T>C , CM000670.2:g.19960926T>C GRCh38
NC_000008.10:g.19818437T>C , CM000670.1:g.19818437T>C GRCh37
NC_000008.9:g.19862717T>C NCBI36
NG_008855.1:g.26856T>C
NG_008855.2:g.64210T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1165T>C MANE Select ENSP00000497642.1:p.Tyr389His
ENST00000650478.1:c.105T>C ENSP00000497560.1:p.Pro35=
ENST00000311322.8:c.1165T>C ENSP00000309757.6:p.Tyr389His
NM_000237.2:c.1165T>C NP_000228.1:p.Tyr389His
NM_000237.3:c.1165T>C MANE Select NP_000228.1:p.Tyr389His
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