Canonical Allele Identifier: CA597940
Gene: PLOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263963
ClinVar RCV Id: RCV000488399 RCV000999754 RCV002278237 RCV002310932 RCV003479085
dbSNP Id: rs142978362
ExAC: 1:12012768 G / T
gnomAD v2: 1-12012768-G-T
gnomAD v3: 1-11952711-G-T
gnomAD v4: 1-11952711-G-T
MyVariant Identifiers: chr1:g.12012768G>T (hg19) chr1:g.11952711G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11952711G>T , CM000663.2:g.11952711G>T GRCh38
NC_000001.10:g.12012768G>T , CM000663.1:g.12012768G>T GRCh37
NC_000001.9:g.11935355G>T NCBI36
NG_008159.1:g.23023G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.555G>T MANE Select ENSP00000196061.4:p.Lys185Asn
ENST00000196061.4:c.555G>T ENSP00000196061.4:p.Lys185Asn
ENST00000358133.5:n.601G>T
ENST00000429000.6:c.555G>T ENSP00000405372.1:p.Lys185Asn
ENST00000485046.5:n.598G>T
NM_000302.3:c.555G>T NP_000293.2:p.Lys185Asn
NM_001316320.1:c.696G>T NP_001303249.1:p.Lys232Asn
XM_011541594.1:c.636G>T XP_011539896.1:p.Lys212Asn
XM_024447707.1:c.-112G>T XP_024303475.1:n.-112G>T
NM_000302.4:c.555G>T MANE Select NP_000293.2:p.Lys185Asn
NM_001316320.2:c.696G>T NP_001303249.1:p.Lys232Asn
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