Canonical Allele Identifier: CA338445071

Gene: PLOD1

Linked Data

• MyVariant Identifiers: chr1:g.12025618A>T (hg19) ; chr1:g.11965561A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965561A>T , CM000663.2:g.11965561A>T	GRCh38
NC_000001.10:g.12025618A>T , CM000663.1:g.12025618A>T	GRCh37
NC_000001.9:g.11948205A>T	NCBI36
NG_008159.1:g.35873A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1552A>T MANE Select	ENSP00000196061.4:p.Asn518Tyr
ENST00000196061.4:c.1552A>T	ENSP00000196061.4:p.Asn518Tyr
ENST00000470133.1:n.166A>T
ENST00000491536.5:n.180A>T
NM_000302.3:c.1552A>T	NP_000293.2:p.Asn518Tyr
NM_001316320.1:c.1693A>T	NP_001303249.1:p.Asn565Tyr
XM_011541594.1:c.1633A>T	XP_011539896.1:p.Asn545Tyr
XM_024447707.1:c.886A>T	XP_024303475.1:p.Asn296Tyr
NM_000302.4:c.1552A>T MANE Select	NP_000293.2:p.Asn518Tyr
NM_001316320.2:c.1693A>T	NP_001303249.1:p.Asn565Tyr