Canonical Allele Identifier: CA18014306

Gene: PLOD1

Linked Data

• dbSNP Id: rs35625768
• gnomAD v3: 1-11965570-T-TG
• gnomAD v4: 1-11965570-T-TG
• MyVariant Identifiers: chr1:g.12025627_12025628insG (hg19) ; chr1:g.11965570_11965571insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965573dup , CM000663.2:g.11965573dup	GRCh38
NC_000001.10:g.12025630dup , CM000663.1:g.12025630dup	GRCh37
NC_000001.9:g.11948217dup	NCBI36
NG_008159.1:g.35885dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1564dup MANE Select	ENSP00000196061.4:p.Glu522GlyfsTer?
ENST00000196061.4:c.1564dup	ENSP00000196061.4:p.Glu522GlyfsTer?
ENST00000470133.1:n.178dup
ENST00000491536.5:n.192dup
NM_000302.3:c.1564dup	NP_000293.2:p.Glu522GlyfsTer?
NM_001316320.1:c.1705dup	NP_001303249.1:p.Glu569GlyfsTer?
XM_011541594.1:c.1645dup	XP_011539896.1:p.Glu549GlyfsTer?
XM_024447707.1:c.898dup	XP_024303475.1:p.Glu300GlyfsTer?
NM_000302.4:c.1564dup MANE Select	NP_000293.2:p.Glu522GlyfsTer?
NM_001316320.2:c.1705dup	NP_001303249.1:p.Glu569GlyfsTer?