Canonical Allele Identifier: CA338444948

Gene: PLOD1

Linked Data

• MyVariant Identifiers: chr1:g.12025607C>G (hg19) ; chr1:g.11965550C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965550C>G , CM000663.2:g.11965550C>G	GRCh38
NC_000001.10:g.12025607C>G , CM000663.1:g.12025607C>G	GRCh37
NC_000001.9:g.11948194C>G	NCBI36
NG_008159.1:g.35862C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1541C>G MANE Select	ENSP00000196061.4:p.Thr514Ser
ENST00000196061.4:c.1541C>G	ENSP00000196061.4:p.Thr514Ser
ENST00000470133.1:n.155C>G
ENST00000491536.5:n.169C>G
NM_000302.3:c.1541C>G	NP_000293.2:p.Thr514Ser
NM_001316320.1:c.1682C>G	NP_001303249.1:p.Thr561Ser
XM_011541594.1:c.1622C>G	XP_011539896.1:p.Thr541Ser
XM_024447707.1:c.875C>G	XP_024303475.1:p.Thr292Ser
NM_000302.4:c.1541C>G MANE Select	NP_000293.2:p.Thr514Ser
NM_001316320.2:c.1682C>G	NP_001303249.1:p.Thr561Ser