Canonical Allele Identifier: CA2742485965
Gene: PLOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965473T>C , CM000663.2:g.11965473T>C GRCh38
NC_000001.10:g.12025530T>C , CM000663.1:g.12025530T>C GRCh37
NC_000001.9:g.11948117T>C NCBI36
NG_008159.1:g.35785T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1471-7T>C MANE Select ENSP00000196061.4:n.1471-7T>C
ENST00000196061.4:c.1471-7T>C ENSP00000196061.4:n.1471-7T>C
ENST00000470133.1:n.85-7T>C
ENST00000491536.5:n.99-7T>C
NM_000302.3:c.1471-7T>C NP_000293.2:n.1471-7T>C
NM_001316320.1:c.1612-7T>C NP_001303249.1:n.1612-7T>C
XM_011541594.1:c.1552-7T>C XP_011539896.1:n.1552-7T>C
XM_024447707.1:c.805-7T>C XP_024303475.1:n.805-7T>C
NM_000302.4:c.1471-7T>C MANE Select NP_000293.2:n.1471-7T>C
NM_001316320.2:c.1612-7T>C NP_001303249.1:n.1612-7T>C