Canonical Allele Identifier: CA338445240

Gene: PLOD1

Linked Data

• MyVariant Identifiers: chr1:g.12025632G>C (hg19) ; chr1:g.11965575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965575G>C , CM000663.2:g.11965575G>C	GRCh38
NC_000001.10:g.12025632G>C , CM000663.1:g.12025632G>C	GRCh37
NC_000001.9:g.11948219G>C	NCBI36
NG_008159.1:g.35887G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1566G>C MANE Select	ENSP00000196061.4:p.Glu522Asp
ENST00000196061.4:c.1566G>C	ENSP00000196061.4:p.Glu522Asp
ENST00000470133.1:n.180G>C
ENST00000491536.5:n.194G>C
NM_000302.3:c.1566G>C	NP_000293.2:p.Glu522Asp
NM_001316320.1:c.1707G>C	NP_001303249.1:p.Glu569Asp
XM_011541594.1:c.1647G>C	XP_011539896.1:p.Glu549Asp
XM_024447707.1:c.900G>C	XP_024303475.1:p.Glu300Asp
NM_000302.4:c.1566G>C MANE Select	NP_000293.2:p.Glu522Asp
NM_001316320.2:c.1707G>C	NP_001303249.1:p.Glu569Asp