Canonical Allele Identifier: CA598437

Gene: PLOD1

Linked Data

• dbSNP Id: rs759113604
• ExAC: 1:12025616 A / G
• gnomAD v2: 1-12025616-A-G
• gnomAD v4: 1-11965559-A-G
• MyVariant Identifiers: chr1:g.12025616A>G (hg19) ; chr1:g.11965559A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965559A>G , CM000663.2:g.11965559A>G	GRCh38
NC_000001.10:g.12025616A>G , CM000663.1:g.12025616A>G	GRCh37
NC_000001.9:g.11948203A>G	NCBI36
NG_008159.1:g.35871A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1550A>G MANE Select	ENSP00000196061.4:p.His517Arg
ENST00000196061.4:c.1550A>G	ENSP00000196061.4:p.His517Arg
ENST00000470133.1:n.164A>G
ENST00000491536.5:n.178A>G
NM_000302.3:c.1550A>G	NP_000293.2:p.His517Arg
NM_001316320.1:c.1691A>G	NP_001303249.1:p.His564Arg
XM_011541594.1:c.1631A>G	XP_011539896.1:p.His544Arg
XM_024447707.1:c.884A>G	XP_024303475.1:p.His295Arg
NM_000302.4:c.1550A>G MANE Select	NP_000293.2:p.His517Arg
NM_001316320.2:c.1691A>G	NP_001303249.1:p.His564Arg