Canonical Allele Identifier: CA598511
Gene: PLOD1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.11966985A>G
GRCh37 chr1:g.12027042A>G
gnomAD v2:
1:12027042 A / G
gnomAD v3:
1:11966985 A / G
gnomAD v4:
chr1-11966985-A-G
Joint Max Group AF 0.00002171 (NFE)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00001846 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11966985A>G , CM000663.2:g.11966985A>G GRCh38
NC_000001.10:g.12027042A>G , CM000663.1:g.12027042A>G GRCh37
NC_000001.9:g.11949629A>G NCBI36
NG_008159.1:g.37297A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1651-2A>G MANE Select ENSP00000196061.4:n.1651-2A>G
ENST00000196061.4:c.1651-2A>G ENSP00000196061.4:n.1651-2A>G
ENST00000491536.5:n.279-2A>G
NM_000302.3:c.1651-2A>G NP_000293.2:n.1651-2A>G
NM_001316320.1:c.1792-2A>G NP_001303249.1:n.1792-2A>G
XM_011541594.1:c.1732-2A>G XP_011539896.1:n.1732-2A>G
XM_024447707.1:c.985-2A>G XP_024303475.1:n.985-2A>G
NM_000302.4:c.1651-2A>G MANE Select NP_000293.2:n.1651-2A>G
NM_001316320.2:c.1792-2A>G NP_001303249.1:n.1792-2A>G
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