Canonical Allele Identifier: CA1111551576
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs2069959728
gnomAD v3: 8-19953945-T-C
gnomAD v4: 8-19953945-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19953945T>C , CM000670.2:g.19953945T>C GRCh38
NC_000008.10:g.19811456T>C , CM000670.1:g.19811456T>C GRCh37
NC_000008.9:g.19855736T>C NCBI36
NG_008855.1:g.19875T>C
NG_008855.2:g.57229T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.542-175T>C MANE Select ENSP00000497642.1:n.542-175T>C
ENST00000311322.8:c.542-175T>C ENSP00000309757.6:n.542-175T>C
ENST00000520959.5:c.314-175T>C ENSP00000428496.1:n.314-175T>C
NM_000237.2:c.542-175T>C NP_000228.1:n.542-175T>C
NM_000237.3:c.542-175T>C MANE Select NP_000228.1:n.542-175T>C
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