Canonical Allele Identifier: CA998645201
Gene: PLOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1645812092
gnomAD v3: 1-11965647-G-A
gnomAD v4: 1-11965647-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965647G>A , CM000663.2:g.11965647G>A GRCh38
NC_000001.10:g.12025704G>A , CM000663.1:g.12025704G>A GRCh37
NC_000001.9:g.11948291G>A NCBI36
NG_008159.1:g.35959G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1584+54G>A MANE Select ENSP00000196061.4:n.1584+54G>A
ENST00000196061.4:c.1584+54G>A ENSP00000196061.4:n.1584+54G>A
ENST00000470133.1:n.198+54G>A
ENST00000491536.5:n.212+54G>A
NM_000302.3:c.1584+54G>A NP_000293.2:n.1584+54G>A
NM_001316320.1:c.1725+54G>A NP_001303249.1:n.1725+54G>A
XM_011541594.1:c.1665+54G>A XP_011539896.1:n.1665+54G>A
XM_024447707.1:c.918+54G>A XP_024303475.1:n.918+54G>A
NM_000302.4:c.1584+54G>A MANE Select NP_000293.2:n.1584+54G>A
NM_001316320.2:c.1725+54G>A NP_001303249.1:n.1725+54G>A
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