Canonical Allele Identifier: CA598038
Community Standard Title: NM_000302.4(PLOD1):c.644-11C>T
Gene: PLOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11956906C>T , CM000663.2:g.11956906C>T GRCh38
NC_000001.10:g.12016963C>T , CM000663.1:g.12016963C>T GRCh37
NC_000001.9:g.11939550C>T NCBI36
NG_008159.1:g.27218C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000302.4:c.644-11C>T MANE Select NP_000293.2:n.644-11C>T
ENST00000196061.5:c.644-11C>T MANE Select ENSP00000196061.4:n.644-11C>T
NM_000302.3:c.644-11C>T NP_000293.2:n.644-11C>T
NM_001316320.1:c.785-11C>T NP_001303249.1:n.785-11C>T
NM_001316320.2:c.785-11C>T NP_001303249.1:n.785-11C>T
ENST00000196061.4:c.644-11C>T ENSP00000196061.4:n.644-11C>T
ENST00000429000.6:c.644-184C>T ENSP00000405372.1:n.644-184C>T
ENST00000465920.1:n.594-11C>T
ENST00000485046.5:n.687-11C>T
XM_011541594.1:c.725-11C>T XP_011539896.1:n.725-11C>T
XM_024447707.1:c.-23-11C>T XP_024303475.1:n.-23-11C>T