Canonical Allele Identifier: CA18002772

Gene: PLOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11956950T>C , CM000663.2:g.11956950T>C	GRCh38
NC_000001.10:g.12017007T>C , CM000663.1:g.12017007T>C	GRCh37
NC_000001.9:g.11939594T>C	NCBI36
NG_008159.1:g.27262T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.677T>C MANE Select	ENSP00000196061.4:p.Val226Ala
ENST00000196061.4:c.677T>C	ENSP00000196061.4:p.Val226Ala
ENST00000429000.6:c.644-140T>C	ENSP00000405372.1:n.644-140T>C
ENST00000465920.1:n.627T>C
ENST00000485046.5:n.720T>C
NM_000302.3:c.677T>C	NP_000293.2:p.Val226Ala
NM_001316320.1:c.818T>C	NP_001303249.1:p.Val273Ala
XM_011541594.1:c.758T>C	XP_011539896.1:p.Val253Ala
XM_024447707.1:c.11T>C	XP_024303475.1:p.Val4Ala
NM_000302.4:c.677T>C MANE Select	NP_000293.2:p.Val226Ala
NM_001316320.2:c.818T>C	NP_001303249.1:p.Val273Ala