Canonical Allele Identifier: CA370468653
Gene: LPL HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.19811822A>C (hg19) chr8:g.19954311A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954311A>C , CM000670.2:g.19954311A>C GRCh38
NC_000008.10:g.19811822A>C , CM000670.1:g.19811822A>C GRCh37
NC_000008.9:g.19856102A>C NCBI36
NG_008855.1:g.20241A>C
NG_008855.2:g.57595A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.733A>C MANE Select ENSP00000497642.1:p.Ile245Leu
ENST00000311322.8:c.733A>C ENSP00000309757.6:p.Ile245Leu
NM_000237.2:c.733A>C NP_000228.1:p.Ile245Leu
NM_000237.3:c.733A>C MANE Select NP_000228.1:p.Ile245Leu
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