Canonical Allele Identifier: CA598431
Gene: PLOD1 HGNC NCBI

Linked Data

dbSNP Id: rs779104605
gnomAD v2: 1-12025568-C-T
gnomAD v4: 1-11965511-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965511C>T , CM000663.2:g.11965511C>T GRCh38
NC_000001.10:g.12025568C>T , CM000663.1:g.12025568C>T GRCh37
NC_000001.9:g.11948155C>T NCBI36
NG_008159.1:g.35823C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1502C>T MANE Select ENSP00000196061.4:p.Thr501Ile
ENST00000196061.4:c.1502C>T ENSP00000196061.4:p.Thr501Ile
ENST00000470133.1:n.116C>T
ENST00000491536.5:n.130C>T
NM_000302.3:c.1502C>T NP_000293.2:p.Thr501Ile
NM_001316320.1:c.1643C>T NP_001303249.1:p.Thr548Ile
XM_011541594.1:c.1583C>T XP_011539896.1:p.Thr528Ile
XM_024447707.1:c.836C>T XP_024303475.1:p.Thr279Ile
NM_000302.4:c.1502C>T MANE Select NP_000293.2:p.Thr501Ile
NM_001316320.2:c.1643C>T NP_001303249.1:p.Thr548Ile