Canonical Allele Identifier: CA416107658

Gene: PLOD1

Linked Data

• gnomAD v4: 1-11965527-C-G
• MyVariant Identifiers: chr1:g.12025584C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965527C>G , CM000663.2:g.11965527C>G	GRCh38
NC_000001.10:g.12025584C>G , CM000663.1:g.12025584C>G	GRCh37
NC_000001.9:g.11948171C>G	NCBI36
NG_008159.1:g.35839C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1518C>G MANE Select	ENSP00000196061.4:p.Leu506=
ENST00000196061.4:c.1518C>G	ENSP00000196061.4:p.Leu506=
ENST00000470133.1:n.132C>G
ENST00000491536.5:n.146C>G
NM_000302.3:c.1518C>G	NP_000293.2:p.Leu506=
NM_001316320.1:c.1659C>G	NP_001303249.1:p.Leu553=
XM_011541594.1:c.1599C>G	XP_011539896.1:p.Leu533=
XM_024447707.1:c.852C>G	XP_024303475.1:p.Leu284=
NM_000302.4:c.1518C>G MANE Select	NP_000293.2:p.Leu506=
NM_001316320.2:c.1659C>G	NP_001303249.1:p.Leu553=