Canonical Allele Identifier: CA4655707
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs374238349
gnomAD v2: 8-19819586-T-C
gnomAD v3: 8-19962075-T-C
gnomAD v4: 8-19962075-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19962075T>C , CM000670.2:g.19962075T>C GRCh38
NC_000008.10:g.19819586T>C , CM000670.1:g.19819586T>C GRCh37
NC_000008.9:g.19863866T>C NCBI36
NG_008855.1:g.28005T>C
NG_008855.2:g.65359T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1323-40T>C MANE Select ENSP00000497642.1:n.1323-40T>C
ENST00000650478.1:c.263-40T>C ENSP00000497560.1:n.263-40T>C
ENST00000311322.8:c.1323-40T>C ENSP00000309757.6:n.1323-40T>C
NM_000237.2:c.1323-40T>C NP_000228.1:n.1323-40T>C
NM_000237.3:c.1323-40T>C MANE Select NP_000228.1:n.1323-40T>C