Canonical Allele Identifier: CA459879519
Gene: LPL HGNC NCBI

Linked Data

gnomAD v4: 8-19954292-T-C
MyVariant Identifiers: chr8:g.19811803T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954292T>C , CM000670.2:g.19954292T>C GRCh38
NC_000008.10:g.19811803T>C , CM000670.1:g.19811803T>C GRCh37
NC_000008.9:g.19856083T>C NCBI36
NG_008855.1:g.20222T>C
NG_008855.2:g.57576T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.714T>C MANE Select ENSP00000497642.1:p.Thr238=
ENST00000311322.8:c.714T>C ENSP00000309757.6:p.Thr238=
NM_000237.2:c.714T>C NP_000228.1:p.Thr238=
NM_000237.3:c.714T>C MANE Select NP_000228.1:p.Thr238=