Canonical Allele Identifier: CA370467453
Gene: LPL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19951806T>C , CM000670.2:g.19951806T>C GRCh38
NC_000008.10:g.19809317T>C , CM000670.1:g.19809317T>C GRCh37
NC_000008.9:g.19853597T>C NCBI36
NG_008855.1:g.17736T>C
NG_008855.2:g.55090T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.287T>C MANE Select ENSP00000497642.1:p.Val96Ala
ENST00000311322.8:c.287T>C ENSP00000309757.6:p.Val96Ala
ENST00000520959.5:c.59T>C ENSP00000428496.1:p.Val20Ala
ENST00000521994.1:n.544T>C
ENST00000522701.5:c.287T>C ENSP00000428557.1:p.Val96Ala
ENST00000524029.5:c.287T>C ENSP00000428237.1:p.Val96Ala
NM_000237.2:c.287T>C NP_000228.1:p.Val96Ala
NM_000237.3:c.287T>C MANE Select NP_000228.1:p.Val96Ala