Canonical Allele Identifier: CA416107634

Gene: PLOD1

Linked Data

• MyVariant Identifiers: chr1:g.12025552C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965495C>T , CM000663.2:g.11965495C>T	GRCh38
NC_000001.10:g.12025552C>T , CM000663.1:g.12025552C>T	GRCh37
NC_000001.9:g.11948139C>T	NCBI36
NG_008159.1:g.35807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1486C>T MANE Select	ENSP00000196061.4:p.Leu496=
ENST00000196061.4:c.1486C>T	ENSP00000196061.4:p.Leu496=
ENST00000470133.1:n.100C>T
ENST00000491536.5:n.114C>T
NM_000302.3:c.1486C>T	NP_000293.2:p.Leu496=
NM_001316320.1:c.1627C>T	NP_001303249.1:p.Leu543=
XM_011541594.1:c.1567C>T	XP_011539896.1:p.Leu523=
XM_024447707.1:c.820C>T	XP_024303475.1:p.Leu274=
NM_000302.4:c.1486C>T MANE Select	NP_000293.2:p.Leu496=
NM_001316320.2:c.1627C>T	NP_001303249.1:p.Leu543=