Canonical Allele Identifier: CA173378932
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs990406792
gnomAD v3: 8-19957554-G-T
gnomAD v4: 8-19957554-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19957554G>T , CM000670.2:g.19957554G>T GRCh38
NC_000008.10:g.19815065G>T , CM000670.1:g.19815065G>T GRCh37
NC_000008.9:g.19859345G>T NCBI36
NG_008855.1:g.23484G>T
NG_008855.2:g.60838G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.1018+1471G>T MANE Select ENSP00000497642.1:n.1018+1471G>T
ENST00000650478.1:c.79+1471G>T ENSP00000497560.1:n.79+1471G>T
ENST00000311322.8:c.1018+1471G>T ENSP00000309757.6:n.1018+1471G>T
NM_000237.2:c.1018+1471G>T NP_000228.1:n.1018+1471G>T
NM_000237.3:c.1018+1471G>T MANE Select NP_000228.1:n.1018+1471G>T