Canonical Allele Identifier: CA338444454

Gene: PLOD1

Linked Data

• MyVariant Identifiers: chr1:g.12025553T>C (hg19) ; chr1:g.11965496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965496T>C , CM000663.2:g.11965496T>C	GRCh38
NC_000001.10:g.12025553T>C , CM000663.1:g.12025553T>C	GRCh37
NC_000001.9:g.11948140T>C	NCBI36
NG_008159.1:g.35808T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1487T>C MANE Select	ENSP00000196061.4:p.Leu496Pro
ENST00000196061.4:c.1487T>C	ENSP00000196061.4:p.Leu496Pro
ENST00000470133.1:n.101T>C
ENST00000491536.5:n.115T>C
NM_000302.3:c.1487T>C	NP_000293.2:p.Leu496Pro
NM_001316320.1:c.1628T>C	NP_001303249.1:p.Leu543Pro
XM_011541594.1:c.1568T>C	XP_011539896.1:p.Leu523Pro
XM_024447707.1:c.821T>C	XP_024303475.1:p.Leu274Pro
NM_000302.4:c.1487T>C MANE Select	NP_000293.2:p.Leu496Pro
NM_001316320.2:c.1628T>C	NP_001303249.1:p.Leu543Pro