Canonical Allele Identifier: CA173378083
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs572488428
gnomAD v3: 8-19955550-C-T
gnomAD v4: 8-19955550-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955550C>T , CM000670.2:g.19955550C>T GRCh38
NC_000008.10:g.19813061C>T , CM000670.1:g.19813061C>T GRCh37
NC_000008.9:g.19857341C>T NCBI36
NG_008855.1:g.21480C>T
NG_008855.2:g.58834C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.776-291C>T MANE Select ENSP00000497642.1:n.776-291C>T
ENST00000311322.8:c.776-291C>T ENSP00000309757.6:n.776-291C>T
NM_000237.2:c.776-291C>T NP_000228.1:n.776-291C>T
NM_000237.3:c.776-291C>T MANE Select NP_000228.1:n.776-291C>T