Canonical Allele Identifier: CA580157394
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1172208281
gnomAD v2: 8-19811455-T-A
gnomAD v3: 8-19953944-T-A
gnomAD v4: 8-19953944-T-A
MyVariant Identifiers: chr8:g.19811455T>A (hg19) chr8:g.19953944T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19953944T>A , CM000670.2:g.19953944T>A GRCh38
NC_000008.10:g.19811455T>A , CM000670.1:g.19811455T>A GRCh37
NC_000008.9:g.19855735T>A NCBI36
NG_008855.1:g.19874T>A
NG_008855.2:g.57228T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.542-176T>A MANE Select ENSP00000497642.1:n.542-176T>A
ENST00000311322.8:c.542-176T>A ENSP00000309757.6:n.542-176T>A
ENST00000520959.5:c.314-176T>A ENSP00000428496.1:n.314-176T>A
NM_000237.2:c.542-176T>A NP_000228.1:n.542-176T>A
NM_000237.3:c.542-176T>A MANE Select NP_000228.1:n.542-176T>A
Search 100 bp 5'
Search 100 bp 3'