Canonical Allele Identifier: CA1769098248
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2069939606
gnomAD v4: 8-19952096-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19952096T>C , CM000670.2:g.19952096T>C GRCh38
NC_000008.10:g.19809607T>C , CM000670.1:g.19809607T>C GRCh37
NC_000008.9:g.19853887T>C NCBI36
NG_008855.1:g.18026T>C
NG_008855.2:g.55380T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.429+148T>C MANE Select ENSP00000497642.1:n.429+148T>C
ENST00000311322.8:c.429+148T>C ENSP00000309757.6:n.429+148T>C
ENST00000520959.5:c.201+148T>C ENSP00000428496.1:n.201+148T>C
NM_000237.2:c.429+148T>C NP_000228.1:n.429+148T>C
NM_000237.3:c.429+148T>C MANE Select NP_000228.1:n.429+148T>C
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