Canonical Allele Identifier: CA598430

Gene: PLOD1

Linked Data

• dbSNP Id: rs755162218
• ExAC: 1:12025562 G / A
• gnomAD v2: 1-12025562-G-A
• gnomAD v4: 1-11965505-G-A
• MyVariant Identifiers: chr1:g.12025562G>A (hg19) ; chr1:g.11965505G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965505G>A , CM000663.2:g.11965505G>A	GRCh38
NC_000001.10:g.12025562G>A , CM000663.1:g.12025562G>A	GRCh37
NC_000001.9:g.11948149G>A	NCBI36
NG_008159.1:g.35817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1496G>A MANE Select	ENSP00000196061.4:p.Arg499Gln
ENST00000196061.4:c.1496G>A	ENSP00000196061.4:p.Arg499Gln
ENST00000470133.1:n.110G>A
ENST00000491536.5:n.124G>A
NM_000302.3:c.1496G>A	NP_000293.2:p.Arg499Gln
NM_001316320.1:c.1637G>A	NP_001303249.1:p.Arg546Gln
XM_011541594.1:c.1577G>A	XP_011539896.1:p.Arg526Gln
XM_024447707.1:c.830G>A	XP_024303475.1:p.Arg277Gln
NM_000302.4:c.1496G>A MANE Select	NP_000293.2:p.Arg499Gln
NM_001316320.2:c.1637G>A	NP_001303249.1:p.Arg546Gln