Canonical Allele Identifier: CA416107675
Gene: PLOD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.12025608C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965551C>A , CM000663.2:g.11965551C>A GRCh38
NC_000001.10:g.12025608C>A , CM000663.1:g.12025608C>A GRCh37
NC_000001.9:g.11948195C>A NCBI36
NG_008159.1:g.35863C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1542C>A MANE Select ENSP00000196061.4:p.Thr514=
ENST00000196061.4:c.1542C>A ENSP00000196061.4:p.Thr514=
ENST00000470133.1:n.156C>A
ENST00000491536.5:n.170C>A
NM_000302.3:c.1542C>A NP_000293.2:p.Thr514=
NM_001316320.1:c.1683C>A NP_001303249.1:p.Thr561=
XM_011541594.1:c.1623C>A XP_011539896.1:p.Thr541=
XM_024447707.1:c.876C>A XP_024303475.1:p.Thr292=
NM_000302.4:c.1542C>A MANE Select NP_000293.2:p.Thr514=
NM_001316320.2:c.1683C>A NP_001303249.1:p.Thr561=