Canonical Allele Identifier: CA416107651

Gene: PLOD1

Linked Data

• dbSNP Id: rs2100759207
• MyVariant Identifiers: chr1:g.12025575C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965518C>T , CM000663.2:g.11965518C>T	GRCh38
NC_000001.10:g.12025575C>T , CM000663.1:g.12025575C>T	GRCh37
NC_000001.9:g.11948162C>T	NCBI36
NG_008159.1:g.35830C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1509C>T MANE Select	ENSP00000196061.4:p.Gly503=
ENST00000196061.4:c.1509C>T	ENSP00000196061.4:p.Gly503=
ENST00000470133.1:n.123C>T
ENST00000491536.5:n.137C>T
NM_000302.3:c.1509C>T	NP_000293.2:p.Gly503=
NM_001316320.1:c.1650C>T	NP_001303249.1:p.Gly550=
XM_011541594.1:c.1590C>T	XP_011539896.1:p.Gly530=
XM_024447707.1:c.843C>T	XP_024303475.1:p.Gly281=
NM_000302.4:c.1509C>T MANE Select	NP_000293.2:p.Gly503=
NM_001316320.2:c.1650C>T	NP_001303249.1:p.Gly550=