Canonical Allele Identifier: CA338444329

Gene: PLOD1

Linked Data

• MyVariant Identifiers: chr1:g.12025538A>C (hg19) ; chr1:g.11965481A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965481A>C , CM000663.2:g.11965481A>C	GRCh38
NC_000001.10:g.12025538A>C , CM000663.1:g.12025538A>C	GRCh37
NC_000001.9:g.11948125A>C	NCBI36
NG_008159.1:g.35793A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1472A>C MANE Select	ENSP00000196061.4:p.Asp491Ala
ENST00000196061.4:c.1472A>C	ENSP00000196061.4:p.Asp491Ala
ENST00000470133.1:n.86A>C
ENST00000491536.5:n.100A>C
NM_000302.3:c.1472A>C	NP_000293.2:p.Asp491Ala
NM_001316320.1:c.1613A>C	NP_001303249.1:p.Asp538Ala
XM_011541594.1:c.1553A>C	XP_011539896.1:p.Asp518Ala
XM_024447707.1:c.806A>C	XP_024303475.1:p.Asp269Ala
NM_000302.4:c.1472A>C MANE Select	NP_000293.2:p.Asp491Ala
NM_001316320.2:c.1613A>C	NP_001303249.1:p.Asp538Ala