Canonical Allele Identifier: CA4655360
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs768553967
gnomAD v2: 8-19809259-A-C
gnomAD v4: 8-19951748-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951748A>C , CM000670.2:g.19951748A>C GRCh38
NC_000008.10:g.19809259A>C , CM000670.1:g.19809259A>C GRCh37
NC_000008.9:g.19853539A>C NCBI36
NG_008855.1:g.17678A>C
NG_008855.2:g.55032A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.250-21A>C MANE Select ENSP00000497642.1:n.250-21A>C
ENST00000311322.8:c.250-21A>C ENSP00000309757.6:n.250-21A>C
ENST00000520959.5:c.22-21A>C ENSP00000428496.1:n.22-21A>C
ENST00000521994.1:n.486A>C
ENST00000522701.5:c.250-21A>C ENSP00000428557.1:n.250-21A>C
ENST00000524029.5:c.250-21A>C ENSP00000428237.1:n.250-21A>C
NM_000237.2:c.250-21A>C NP_000228.1:n.250-21A>C
NM_000237.3:c.250-21A>C MANE Select NP_000228.1:n.250-21A>C