Canonical Allele Identifier: CA2580060983

Gene: PLOD1

Linked Data

• ClinVar Variation Id: 2028026
• ClinVar RCV Id: RCV002866912

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965472C>G , CM000663.2:g.11965472C>G	GRCh38
NC_000001.10:g.12025529C>G , CM000663.1:g.12025529C>G	GRCh37
NC_000001.9:g.11948116C>G	NCBI36
NG_008159.1:g.35784C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1471-8C>G MANE Select	ENSP00000196061.4:n.1471-8C>G
ENST00000196061.4:c.1471-8C>G	ENSP00000196061.4:n.1471-8C>G
ENST00000470133.1:n.85-8C>G
ENST00000491536.5:n.99-8C>G
NM_000302.3:c.1471-8C>G	NP_000293.2:n.1471-8C>G
NM_001316320.1:c.1612-8C>G	NP_001303249.1:n.1612-8C>G
XM_011541594.1:c.1552-8C>G	XP_011539896.1:n.1552-8C>G
XM_024447707.1:c.805-8C>G	XP_024303475.1:n.805-8C>G
NM_000302.4:c.1471-8C>G MANE Select	NP_000293.2:n.1471-8C>G
NM_001316320.2:c.1612-8C>G	NP_001303249.1:n.1612-8C>G