Canonical Allele Identifier: CA416107629
Gene: PLOD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.12025542G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965485G>C , CM000663.2:g.11965485G>C GRCh38
NC_000001.10:g.12025542G>C , CM000663.1:g.12025542G>C GRCh37
NC_000001.9:g.11948129G>C NCBI36
NG_008159.1:g.35797G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1476G>C MANE Select ENSP00000196061.4:p.Val492=
ENST00000196061.4:c.1476G>C ENSP00000196061.4:p.Val492=
ENST00000470133.1:n.90G>C
ENST00000491536.5:n.104G>C
NM_000302.3:c.1476G>C NP_000293.2:p.Val492=
NM_001316320.1:c.1617G>C NP_001303249.1:p.Val539=
XM_011541594.1:c.1557G>C XP_011539896.1:p.Val519=
XM_024447707.1:c.810G>C XP_024303475.1:p.Val270=
NM_000302.4:c.1476G>C MANE Select NP_000293.2:p.Val492=
NM_001316320.2:c.1617G>C NP_001303249.1:p.Val539=
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