Canonical Allele Identifier: CA598432

Gene: PLOD1

Linked Data

• ClinVar Variation Id: 255801
• ClinVar RCV Id: RCV000246712 ; RCV000288518 ; RCV000415917 ; RCV002277608 ; RCV002310826
• dbSNP Id: rs138490756
• ExAC: 1:12025600 C / T
• gnomAD v2: 1-12025600-C-T
• gnomAD v3: 1-11965543-C-T
• gnomAD v4: 1-11965543-C-T
• MyVariant Identifiers: chr1:g.12025600C>T (hg19) ; chr1:g.11965543C>T (hg38)
• PubMed: PMID:14565595 ; PMID:16758144

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965543C>T , CM000663.2:g.11965543C>T	GRCh38
NC_000001.10:g.12025600C>T , CM000663.1:g.12025600C>T	GRCh37
NC_000001.9:g.11948187C>T	NCBI36
NG_008159.1:g.35855C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1534C>T MANE Select	ENSP00000196061.4:p.Arg512Cys
ENST00000196061.4:c.1534C>T	ENSP00000196061.4:p.Arg512Cys
ENST00000470133.1:n.148C>T
ENST00000491536.5:n.162C>T
NM_000302.3:c.1534C>T	NP_000293.2:p.Arg512Cys
NM_001316320.1:c.1675C>T	NP_001303249.1:p.Arg559Cys
XM_011541594.1:c.1615C>T	XP_011539896.1:p.Arg539Cys
XM_024447707.1:c.868C>T	XP_024303475.1:p.Arg290Cys
NM_000302.4:c.1534C>T MANE Select	NP_000293.2:p.Arg512Cys
NM_001316320.2:c.1675C>T	NP_001303249.1:p.Arg559Cys