Canonical Allele Identifier: CA338445083

Gene: PLOD1

Linked Data

• MyVariant Identifiers: chr1:g.12025619A>C (hg19) ; chr1:g.11965562A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965562A>C , CM000663.2:g.11965562A>C	GRCh38
NC_000001.10:g.12025619A>C , CM000663.1:g.12025619A>C	GRCh37
NC_000001.9:g.11948206A>C	NCBI36
NG_008159.1:g.35874A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1553A>C MANE Select	ENSP00000196061.4:p.Asn518Thr
ENST00000196061.4:c.1553A>C	ENSP00000196061.4:p.Asn518Thr
ENST00000470133.1:n.167A>C
ENST00000491536.5:n.181A>C
NM_000302.3:c.1553A>C	NP_000293.2:p.Asn518Thr
NM_001316320.1:c.1694A>C	NP_001303249.1:p.Asn565Thr
XM_011541594.1:c.1634A>C	XP_011539896.1:p.Asn545Thr
XM_024447707.1:c.887A>C	XP_024303475.1:p.Asn296Thr
NM_000302.4:c.1553A>C MANE Select	NP_000293.2:p.Asn518Thr
NM_001316320.2:c.1694A>C	NP_001303249.1:p.Asn565Thr