Canonical Allele Identifier: CA338444718

Gene: PLOD1

Linked Data

• MyVariant Identifiers: chr1:g.12025585T>G (hg19) ; chr1:g.11965528T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965528T>G , CM000663.2:g.11965528T>G	GRCh38
NC_000001.10:g.12025585T>G , CM000663.1:g.12025585T>G	GRCh37
NC_000001.9:g.11948172T>G	NCBI36
NG_008159.1:g.35840T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1519T>G MANE Select	ENSP00000196061.4:p.Ser507Ala
ENST00000196061.4:c.1519T>G	ENSP00000196061.4:p.Ser507Ala
ENST00000470133.1:n.133T>G
ENST00000491536.5:n.147T>G
NM_000302.3:c.1519T>G	NP_000293.2:p.Ser507Ala
NM_001316320.1:c.1660T>G	NP_001303249.1:p.Ser554Ala
XM_011541594.1:c.1600T>G	XP_011539896.1:p.Ser534Ala
XM_024447707.1:c.853T>G	XP_024303475.1:p.Ser285Ala
NM_000302.4:c.1519T>G MANE Select	NP_000293.2:p.Ser507Ala
NM_001316320.2:c.1660T>G	NP_001303249.1:p.Ser554Ala