Canonical Allele Identifier: CA658656878

Gene: PLOD1

Linked Data

• ClinVar Variation Id: 459807
• ClinVar RCV Id: RCV000537084 ; RCV000605810 ; RCV003222020
• dbSNP Id: rs1553136318

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965471_11965472delinsGT , CM000663.2:g.11965471_11965472delinsGT	GRCh38
NC_000001.10:g.12025528_12025529delinsGT , CM000663.1:g.12025528_12025529delinsGT	GRCh37
NC_000001.9:g.11948115_11948116delinsGT	NCBI36
NG_008159.1:g.35783_35784delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1471-9_1471-8delinsGT MANE Select	ENSP00000196061.4:n.1471-9_1471-8delinsGT
ENST00000196061.4:c.1471-9_1471-8delinsGT	ENSP00000196061.4:n.1471-9_1471-8delinsGT
ENST00000470133.1:n.85-9_85-8delinsGT
ENST00000491536.5:n.99-9_99-8delinsGT
NM_000302.3:c.1471-9_1471-8delinsGT	NP_000293.2:n.1471-9_1471-8delinsGT
NM_001316320.1:c.1612-9_1612-8delinsGT	NP_001303249.1:n.1612-9_1612-8delinsGT
XM_011541594.1:c.1552-9_1552-8delinsGT	XP_011539896.1:n.1552-9_1552-8delinsGT
XM_024447707.1:c.805-9_805-8delinsGT	XP_024303475.1:n.805-9_805-8delinsGT
NM_000302.4:c.1471-9_1471-8delinsGT MANE Select	NP_000293.2:n.1471-9_1471-8delinsGT
NM_001316320.2:c.1612-9_1612-8delinsGT	NP_001303249.1:n.1612-9_1612-8delinsGT