Canonical Allele Identifier: CA459879436
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1477766735
gnomAD v3: 8-19955884-T-C
gnomAD v4: 8-19955884-T-C
MyVariant Identifiers: chr8:g.19813395T>C (hg19) chr8:g.19955884T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955884T>C , CM000670.2:g.19955884T>C GRCh38
NC_000008.10:g.19813395T>C , CM000670.1:g.19813395T>C GRCh37
NC_000008.9:g.19857675T>C NCBI36
NG_008855.1:g.21814T>C
NG_008855.2:g.59168T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.819T>C MANE Select ENSP00000497642.1:p.His273=
ENST00000311322.8:c.819T>C ENSP00000309757.6:p.His273=
NM_000237.2:c.819T>C NP_000228.1:p.His273=
NM_000237.3:c.819T>C MANE Select NP_000228.1:p.His273=
Search 100 bp 5'
Search 100 bp 3'