Canonical Allele Identifier: CA173618707
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs544134518
gnomAD v3: 8-19966642-T-C
gnomAD v4: 8-19966642-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19966642T>C , CM000670.2:g.19966642T>C GRCh38
NC_000008.10:g.19824153T>C , CM000670.1:g.19824153T>C GRCh37
NC_000008.9:g.19868433T>C NCBI36
NG_008855.1:g.32572T>C
NG_008855.2:g.69926T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.*1332T>C MANE Select ENSP00000497642.1:n.*1332T>C
ENST00000650478.1:c.1700T>C ENSP00000497560.1:n.1700T>C
ENST00000311322.8:c.*1332T>C ENSP00000309757.6:n.*1332T>C
NM_000237.2:c.*1332T>C NP_000228.1:n.*1332T>C
NM_000237.3:c.*1332T>C MANE Select NP_000228.1:n.*1332T>C