Canonical Allele Identifier: CA580157421
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1342927175
gnomAD v2: 8-19811605-G-C
gnomAD v4: 8-19954094-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954094G>C , CM000670.2:g.19954094G>C GRCh38
NC_000008.10:g.19811605G>C , CM000670.1:g.19811605G>C GRCh37
NC_000008.9:g.19855885G>C NCBI36
NG_008855.1:g.20024G>C
NG_008855.2:g.57378G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650287.1:c.542-26G>C MANE Select ENSP00000497642.1:n.542-26G>C
ENST00000311322.8:c.542-26G>C ENSP00000309757.6:n.542-26G>C
ENST00000520959.5:c.314-26G>C ENSP00000428496.1:n.314-26G>C
NM_000237.2:c.542-26G>C NP_000228.1:n.542-26G>C
NM_000237.3:c.542-26G>C MANE Select NP_000228.1:n.542-26G>C