Canonical Allele Identifier: CA370468409
Gene: LPL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954194G>T , CM000670.2:g.19954194G>T GRCh38
NC_000008.10:g.19811705G>T , CM000670.1:g.19811705G>T GRCh37
NC_000008.9:g.19855985G>T NCBI36
NG_008855.1:g.20124G>T
NG_008855.2:g.57478G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.616G>T MANE Select ENSP00000497642.1:p.Val206Leu
ENST00000311322.8:c.616G>T ENSP00000309757.6:p.Val206Leu
NM_000237.2:c.616G>T NP_000228.1:p.Val206Leu
NM_000237.3:c.616G>T MANE Select NP_000228.1:p.Val206Leu