Canonical Allele Identifier: CA1111574251
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2069933578
gnomAD v3: 8-19951462-T-C
gnomAD v4: 8-19951462-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951462T>C , CM000670.2:g.19951462T>C GRCh38
NC_000008.10:g.19808973T>C , CM000670.1:g.19808973T>C GRCh37
NC_000008.9:g.19853253T>C NCBI36
NG_008855.1:g.17392T>C
NG_008855.2:g.54746T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.250-307T>C MANE Select ENSP00000497642.1:n.250-307T>C
ENST00000311322.8:c.250-307T>C ENSP00000309757.6:n.250-307T>C
ENST00000520959.5:c.22-307T>C ENSP00000428496.1:n.22-307T>C
ENST00000521994.1:n.435-235T>C
ENST00000522701.5:c.250-307T>C ENSP00000428557.1:n.250-307T>C
ENST00000524029.5:c.250-307T>C ENSP00000428237.1:n.250-307T>C
NM_000237.2:c.250-307T>C NP_000228.1:n.250-307T>C
NM_000237.3:c.250-307T>C MANE Select NP_000228.1:n.250-307T>C
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