Canonical Allele Identifier: CA598415

Gene: PLOD1

Linked Data

• dbSNP Id: rs763066177
• ExAC: 1:12025507 C / CCT
• gnomAD v2: 1-12025507-C-CCT
• gnomAD v4: 1-11965450-C-CCT
• MyVariant Identifiers: chr1:g.12025507_12025508insCT (hg19) ; chr1:g.11965450_11965451insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965450_11965451insCT , CM000663.2:g.11965450_11965451insCT	GRCh38
NC_000001.10:g.12025507_12025508insCT , CM000663.1:g.12025507_12025508insCT	GRCh37
NC_000001.9:g.11948094_11948095insCT	NCBI36
NG_008159.1:g.35762_35763insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1471-30_1471-29insCT MANE Select	ENSP00000196061.4:n.1471-30_1471-29insCT
ENST00000196061.4:c.1471-30_1471-29insCT	ENSP00000196061.4:n.1471-30_1471-29insCT
ENST00000470133.1:n.85-30_85-29insCT
ENST00000491536.5:n.99-30_99-29insCT
NM_000302.3:c.1471-30_1471-29insCT	NP_000293.2:n.1471-30_1471-29insCT
NM_001316320.1:c.1612-30_1612-29insCT	NP_001303249.1:n.1612-30_1612-29insCT
XM_011541594.1:c.1552-30_1552-29insCT	XP_011539896.1:n.1552-30_1552-29insCT
XM_024447707.1:c.805-30_805-29insCT	XP_024303475.1:n.805-30_805-29insCT
NM_000302.4:c.1471-30_1471-29insCT MANE Select	NP_000293.2:n.1471-30_1471-29insCT
NM_001316320.2:c.1612-30_1612-29insCT	NP_001303249.1:n.1612-30_1612-29insCT