Canonical Allele Identifier: CA416107637

Gene: PLOD1

Linked Data

• gnomAD v4: 1-11965497-G-A
• MyVariant Identifiers: chr1:g.12025554G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965497G>A , CM000663.2:g.11965497G>A	GRCh38
NC_000001.10:g.12025554G>A , CM000663.1:g.12025554G>A	GRCh37
NC_000001.9:g.11948141G>A	NCBI36
NG_008159.1:g.35809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1488G>A MANE Select	ENSP00000196061.4:p.Leu496=
ENST00000196061.4:c.1488G>A	ENSP00000196061.4:p.Leu496=
ENST00000470133.1:n.102G>A
ENST00000491536.5:n.116G>A
NM_000302.3:c.1488G>A	NP_000293.2:p.Leu496=
NM_001316320.1:c.1629G>A	NP_001303249.1:p.Leu543=
XM_011541594.1:c.1569G>A	XP_011539896.1:p.Leu523=
XM_024447707.1:c.822G>A	XP_024303475.1:p.Leu274=
NM_000302.4:c.1488G>A MANE Select	NP_000293.2:p.Leu496=
NM_001316320.2:c.1629G>A	NP_001303249.1:p.Leu543=