Canonical Allele Identifier: CA2643331218
Gene: PLOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2788340
ClinVar RCV Id: RCV003629465
gnomAD v4: 1-11965463-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11965463G>C , CM000663.2:g.11965463G>C GRCh38
NC_000001.10:g.12025520G>C , CM000663.1:g.12025520G>C GRCh37
NC_000001.9:g.11948107G>C NCBI36
NG_008159.1:g.35775G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1471-17G>C MANE Select ENSP00000196061.4:n.1471-17G>C
ENST00000196061.4:c.1471-17G>C ENSP00000196061.4:n.1471-17G>C
ENST00000470133.1:n.85-17G>C
ENST00000491536.5:n.99-17G>C
NM_000302.3:c.1471-17G>C NP_000293.2:n.1471-17G>C
NM_001316320.1:c.1612-17G>C NP_001303249.1:n.1612-17G>C
XM_011541594.1:c.1552-17G>C XP_011539896.1:n.1552-17G>C
XM_024447707.1:c.805-17G>C XP_024303475.1:n.805-17G>C
NM_000302.4:c.1471-17G>C MANE Select NP_000293.2:n.1471-17G>C
NM_001316320.2:c.1612-17G>C NP_001303249.1:n.1612-17G>C
Search 100 bp 5'
Search 100 bp 3'