Canonical Allele Identifier: CA4655486
Gene: LPL HGNC NCBI

Linked Data

ClinVar Variation Id: 910421
dbSNP Id: rs140457997
gnomAD v2: 8-19811737-C-T
gnomAD v3: 8-19954226-C-T
gnomAD v4: 8-19954226-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954226C>T , CM000670.2:g.19954226C>T GRCh38
NC_000008.10:g.19811737C>T , CM000670.1:g.19811737C>T GRCh37
NC_000008.9:g.19856017C>T NCBI36
NG_008855.1:g.20156C>T
NG_008855.2:g.57510C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.648C>T MANE Select ENSP00000497642.1:p.Ser216=
ENST00000311322.8:c.648C>T ENSP00000309757.6:p.Ser216=
NM_000237.2:c.648C>T NP_000228.1:p.Ser216=
NM_000237.3:c.648C>T MANE Select NP_000228.1:p.Ser216=