Canonical Allele Identifier: CA416107659

Gene: PLOD1

Linked Data

• dbSNP Id: rs1462338567
• gnomAD v2: 1-12025584-C-T
• MyVariant Identifiers: chr1:g.12025584C>T (hg19) ; chr1:g.11965527C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965527C>T , CM000663.2:g.11965527C>T	GRCh38
NC_000001.10:g.12025584C>T , CM000663.1:g.12025584C>T	GRCh37
NC_000001.9:g.11948171C>T	NCBI36
NG_008159.1:g.35839C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1518C>T MANE Select	ENSP00000196061.4:p.Leu506=
ENST00000196061.4:c.1518C>T	ENSP00000196061.4:p.Leu506=
ENST00000470133.1:n.132C>T
ENST00000491536.5:n.146C>T
NM_000302.3:c.1518C>T	NP_000293.2:p.Leu506=
NM_001316320.1:c.1659C>T	NP_001303249.1:p.Leu553=
XM_011541594.1:c.1599C>T	XP_011539896.1:p.Leu533=
XM_024447707.1:c.852C>T	XP_024303475.1:p.Leu284=
NM_000302.4:c.1518C>T MANE Select	NP_000293.2:p.Leu506=
NM_001316320.2:c.1659C>T	NP_001303249.1:p.Leu553=