Canonical Allele Identifier: CA338444582

Gene: PLOD1

Linked Data

• MyVariant Identifiers: chr1:g.12025573G>T (hg19) ; chr1:g.11965516G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965516G>T , CM000663.2:g.11965516G>T	GRCh38
NC_000001.10:g.12025573G>T , CM000663.1:g.12025573G>T	GRCh37
NC_000001.9:g.11948160G>T	NCBI36
NG_008159.1:g.35828G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1507G>T MANE Select	ENSP00000196061.4:p.Gly503Cys
ENST00000196061.4:c.1507G>T	ENSP00000196061.4:p.Gly503Cys
ENST00000470133.1:n.121G>T
ENST00000491536.5:n.135G>T
NM_000302.3:c.1507G>T	NP_000293.2:p.Gly503Cys
NM_001316320.1:c.1648G>T	NP_001303249.1:p.Gly550Cys
XM_011541594.1:c.1588G>T	XP_011539896.1:p.Gly530Cys
XM_024447707.1:c.841G>T	XP_024303475.1:p.Gly281Cys
NM_000302.4:c.1507G>T MANE Select	NP_000293.2:p.Gly503Cys
NM_001316320.2:c.1648G>T	NP_001303249.1:p.Gly550Cys