Canonical Allele Identifier: CA597778

Gene: PLOD1

Linked Data

• ClinVar Variation Id: 459827
• ClinVar RCV Id: RCV000558335 ; RCV001579366 ; RCV002279344
• dbSNP Id: rs371488160
• ExAC: 1:12008026 T / C
• gnomAD v2: 1-12008026-T-C
• gnomAD v3: 1-11947969-T-C
• gnomAD v4: 1-11947969-T-C
• MyVariant Identifiers: chr1:g.12008026T>C (hg19) ; chr1:g.11947969T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11947969T>C , CM000663.2:g.11947969T>C	GRCh38
NC_000001.10:g.12008026T>C , CM000663.1:g.12008026T>C	GRCh37
NC_000001.9:g.11930613T>C	NCBI36
NG_008159.1:g.18281T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.77-7T>C MANE Select	ENSP00000196061.4:n.77-7T>C
ENST00000196061.4:c.77-7T>C	ENSP00000196061.4:n.77-7T>C
ENST00000358133.5:n.123-7T>C
ENST00000429000.6:c.77-7T>C	ENSP00000405372.1:n.77-7T>C
ENST00000449038.5:c.218-7T>C	ENSP00000414443.1:n.218-7T>C
ENST00000485046.5:n.120-7T>C
NM_000302.3:c.77-7T>C	NP_000293.2:n.77-7T>C
NM_001316320.1:c.218-7T>C	NP_001303249.1:n.218-7T>C
XM_011541594.1:c.158-7T>C	XP_011539896.1:n.158-7T>C
XM_024447707.1:c.-590-7T>C	XP_024303475.1:n.-590-7T>C
NM_000302.4:c.77-7T>C MANE Select	NP_000293.2:n.77-7T>C
NM_001316320.2:c.218-7T>C	NP_001303249.1:n.218-7T>C