Canonical Allele Identifier: CA416107671

Gene: PLOD1

Linked Data

• gnomAD v4: 1-11965545-C-T
• MyVariant Identifiers: chr1:g.12025602C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965545C>T , CM000663.2:g.11965545C>T	GRCh38
NC_000001.10:g.12025602C>T , CM000663.1:g.12025602C>T	GRCh37
NC_000001.9:g.11948189C>T	NCBI36
NG_008159.1:g.35857C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1536C>T MANE Select	ENSP00000196061.4:p.Arg512=
ENST00000196061.4:c.1536C>T	ENSP00000196061.4:p.Arg512=
ENST00000470133.1:n.150C>T
ENST00000491536.5:n.164C>T
NM_000302.3:c.1536C>T	NP_000293.2:p.Arg512=
NM_001316320.1:c.1677C>T	NP_001303249.1:p.Arg559=
XM_011541594.1:c.1617C>T	XP_011539896.1:p.Arg539=
XM_024447707.1:c.870C>T	XP_024303475.1:p.Arg290=
NM_000302.4:c.1536C>T MANE Select	NP_000293.2:p.Arg512=
NM_001316320.2:c.1677C>T	NP_001303249.1:p.Arg559=