Canonical Allele Identifier: CA915941128

Gene: PLOD1

Linked Data

• ClinVar Variation Id: 801439
• ClinVar RCV Id: RCV000986239
• dbSNP Id: rs1569724692

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965488dup , CM000663.2:g.11965488dup	GRCh38
NC_000001.10:g.12025545dup , CM000663.1:g.12025545dup	GRCh37
NC_000001.9:g.11948132dup	NCBI36
NG_008159.1:g.35800dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1479dup MANE Select	ENSP00000196061.4:p.Met494HisfsTer?
ENST00000196061.4:c.1479dup	ENSP00000196061.4:p.Met494HisfsTer?
ENST00000470133.1:n.93dup
ENST00000491536.5:n.107dup
NM_000302.3:c.1479dup	NP_000293.2:p.Met494HisfsTer?
NM_001316320.1:c.1620dup	NP_001303249.1:p.Met541HisfsTer?
XM_011541594.1:c.1560dup	XP_011539896.1:p.Met521HisfsTer?
XM_024447707.1:c.813dup	XP_024303475.1:p.Met272HisfsTer?
NM_000302.4:c.1479dup MANE Select	NP_000293.2:p.Met494HisfsTer?
NM_001316320.2:c.1620dup	NP_001303249.1:p.Met541HisfsTer?