Canonical Allele Identifier: CA338444434
Gene: PLOD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.12025551C>A (hg19) chr1:g.11965494C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965494C>A , CM000663.2:g.11965494C>A GRCh38
NC_000001.10:g.12025551C>A , CM000663.1:g.12025551C>A GRCh37
NC_000001.9:g.11948138C>A NCBI36
NG_008159.1:g.35806C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1485C>A MANE Select ENSP00000196061.4:p.Phe495Leu
ENST00000196061.4:c.1485C>A ENSP00000196061.4:p.Phe495Leu
ENST00000470133.1:n.99C>A
ENST00000491536.5:n.113C>A
NM_000302.3:c.1485C>A NP_000293.2:p.Phe495Leu
NM_001316320.1:c.1626C>A NP_001303249.1:p.Phe542Leu
XM_011541594.1:c.1566C>A XP_011539896.1:p.Phe522Leu
XM_024447707.1:c.819C>A XP_024303475.1:p.Phe273Leu
NM_000302.4:c.1485C>A MANE Select NP_000293.2:p.Phe495Leu
NM_001316320.2:c.1626C>A NP_001303249.1:p.Phe542Leu
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