Canonical Allele Identifier: CA338444749

Gene: PLOD1

Linked Data

• MyVariant Identifiers: chr1:g.12025589T>A (hg19) ; chr1:g.11965532T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965532T>A , CM000663.2:g.11965532T>A	GRCh38
NC_000001.10:g.12025589T>A , CM000663.1:g.12025589T>A	GRCh37
NC_000001.9:g.11948176T>A	NCBI36
NG_008159.1:g.35844T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1523T>A MANE Select	ENSP00000196061.4:p.Leu508Gln
ENST00000196061.4:c.1523T>A	ENSP00000196061.4:p.Leu508Gln
ENST00000470133.1:n.137T>A
ENST00000491536.5:n.151T>A
NM_000302.3:c.1523T>A	NP_000293.2:p.Leu508Gln
NM_001316320.1:c.1664T>A	NP_001303249.1:p.Leu555Gln
XM_011541594.1:c.1604T>A	XP_011539896.1:p.Leu535Gln
XM_024447707.1:c.857T>A	XP_024303475.1:p.Leu286Gln
NM_000302.4:c.1523T>A MANE Select	NP_000293.2:p.Leu508Gln
NM_001316320.2:c.1664T>A	NP_001303249.1:p.Leu555Gln