Canonical Allele Identifier: CA281006
Gene: PLOD1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.11958627C>T
GRCh37 chr1:g.12018684C>T
gnomAD v2:
1:12018684 C / T
gnomAD v4:
chr1-11958627-C-T
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar Allele:
29403
ClinVar RCV:
RCV000015438
RCV000760317
ClinVar Variation:
14364
dbSNP:
121913550
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11958627C>T , CM000663.2:g.11958627C>T GRCh38
NC_000001.10:g.12018684C>T , CM000663.1:g.12018684C>T GRCh37
NC_000001.9:g.11941271C>T NCBI36
NG_008159.1:g.28939C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.955C>T MANE Select ENSP00000196061.4:p.Arg319Ter
ENST00000196061.4:c.955C>T ENSP00000196061.4:p.Arg319Ter
NM_000302.3:c.955C>T NP_000293.2:p.Arg319Ter
NM_001316320.1:c.1096C>T NP_001303249.1:p.Arg366Ter
XM_011541594.1:c.1036C>T XP_011539896.1:p.Arg346Ter
XM_024447707.1:c.289C>T XP_024303475.1:p.Arg97Ter
NM_000302.4:c.955C>T MANE Select NP_000293.2:p.Arg319Ter
NM_001316320.2:c.1096C>T NP_001303249.1:p.Arg366Ter
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