Canonical Allele Identifier: CA281014

Gene: PLOD1

Linked Data

• ClinVar Variation Id: 14370
• ClinVar RCV Id: RCV000015447 ; RCV000255839 ; RCV002276550 ; RCV002313712 ; RCV003904842
• dbSNP Id: rs121913552
• ExAC: 1:12025599 C / G
• gnomAD v2: 1-12025599-C-G
• gnomAD v3: 1-11965542-C-G
• gnomAD v4: 1-11965542-C-G
• MyVariant Identifiers: chr1:g.12025599C>G (hg19) ; chr1:g.11965542C>G (hg38)
• PubMed: PMID:9220536 ; PMID:9893157 ; PMID:10329027 ; PMID:11001813

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965542C>G , CM000663.2:g.11965542C>G	GRCh38
NC_000001.10:g.12025599C>G , CM000663.1:g.12025599C>G	GRCh37
NC_000001.9:g.11948186C>G	NCBI36
NG_008159.1:g.35854C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1533C>G MANE Select	ENSP00000196061.4:p.Tyr511Ter
ENST00000196061.4:c.1533C>G	ENSP00000196061.4:p.Tyr511Ter
ENST00000470133.1:n.147C>G
ENST00000491536.5:n.161C>G
NM_000302.3:c.1533C>G	NP_000293.2:p.Tyr511Ter
NM_001316320.1:c.1674C>G	NP_001303249.1:p.Tyr558Ter
XM_011541594.1:c.1614C>G	XP_011539896.1:p.Tyr538Ter
XM_024447707.1:c.867C>G	XP_024303475.1:p.Tyr289Ter
NM_000302.4:c.1533C>G MANE Select	NP_000293.2:p.Tyr511Ter
NM_001316320.2:c.1674C>G	NP_001303249.1:p.Tyr558Ter