Canonical Allele Identifier: CA338444575
Gene: PLOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965514T>A , CM000663.2:g.11965514T>A GRCh38
NC_000001.10:g.12025571T>A , CM000663.1:g.12025571T>A GRCh37
NC_000001.9:g.11948158T>A NCBI36
NG_008159.1:g.35826T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1505T>A MANE Select ENSP00000196061.4:p.Leu502His
ENST00000196061.4:c.1505T>A ENSP00000196061.4:p.Leu502His
ENST00000470133.1:n.119T>A
ENST00000491536.5:n.133T>A
NM_000302.3:c.1505T>A NP_000293.2:p.Leu502His
NM_001316320.1:c.1646T>A NP_001303249.1:p.Leu549His
XM_011541594.1:c.1586T>A XP_011539896.1:p.Leu529His
XM_024447707.1:c.839T>A XP_024303475.1:p.Leu280His
NM_000302.4:c.1505T>A MANE Select NP_000293.2:p.Leu502His
NM_001316320.2:c.1646T>A NP_001303249.1:p.Leu549His