Canonical Allele Identifier: CA598422

Gene: PLOD1

Linked Data

• ClinVar Variation Id: 777072
• ClinVar RCV Id: RCV000957484 ; RCV001726387
• dbSNP Id: rs201661871
• ExAC: 1:12025529 C / T
• gnomAD v2: 1-12025529-C-T
• gnomAD v3: 1-11965472-C-T
• gnomAD v4: 1-11965472-C-T
• MyVariant Identifiers: chr1:g.12025529C>T (hg19) ; chr1:g.11965472C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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