Canonical Allele Identifier: CA338444456

Gene: PLOD1

Linked Data

• gnomAD v4: 1-11965496-T-G
• MyVariant Identifiers: chr1:g.12025553T>G (hg19) ; chr1:g.11965496T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965496T>G , CM000663.2:g.11965496T>G	GRCh38
NC_000001.10:g.12025553T>G , CM000663.1:g.12025553T>G	GRCh37
NC_000001.9:g.11948140T>G	NCBI36
NG_008159.1:g.35808T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1487T>G MANE Select	ENSP00000196061.4:p.Leu496Arg
ENST00000196061.4:c.1487T>G	ENSP00000196061.4:p.Leu496Arg
ENST00000470133.1:n.101T>G
ENST00000491536.5:n.115T>G
NM_000302.3:c.1487T>G	NP_000293.2:p.Leu496Arg
NM_001316320.1:c.1628T>G	NP_001303249.1:p.Leu543Arg
XM_011541594.1:c.1568T>G	XP_011539896.1:p.Leu523Arg
XM_024447707.1:c.821T>G	XP_024303475.1:p.Leu274Arg
NM_000302.4:c.1487T>G MANE Select	NP_000293.2:p.Leu496Arg
NM_001316320.2:c.1628T>G	NP_001303249.1:p.Leu543Arg