Canonical Allele Identifier: CA521198671

Gene: PLOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11944625T>C , CM000663.2:g.11944625T>C	GRCh38
NC_000001.10:g.12004682T>C , CM000663.1:g.12004682T>C	GRCh37
NC_000001.9:g.11927269T>C	NCBI36
NG_008159.1:g.14937T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.77-3351T>C MANE Select	ENSP00000196061.4:n.77-3351T>C
ENST00000196061.4:c.77-3351T>C	ENSP00000196061.4:n.77-3351T>C
ENST00000358133.5:n.123-3351T>C
ENST00000429000.6:c.77-3351T>C	ENSP00000405372.1:n.77-3351T>C
ENST00000449038.5:c.180T>C	ENSP00000414443.1:p.Ser60=
ENST00000485046.5:n.120-3351T>C
NM_000302.3:c.77-3351T>C	NP_000293.2:n.77-3351T>C
NM_001316320.1:c.180T>C	NP_001303249.1:p.Ser60=
XM_011541594.1:c.120T>C	XP_011539896.1:p.Ser40=
XM_024447707.1:c.-591+1847T>C	XP_024303475.1:n.-591+1847T>C
NM_000302.4:c.77-3351T>C MANE Select	NP_000293.2:n.77-3351T>C
NM_001316320.2:c.180T>C	NP_001303249.1:p.Ser60=