Canonical Allele Identifier: CA521201654

Gene: PLOD1

Linked Data

• dbSNP Id: rs978055843
• gnomAD v2: 1-12025449-C-G
• MyVariant Identifiers: chr1:g.12025449C>G (hg19) ; chr1:g.11965392C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965392C>G , CM000663.2:g.11965392C>G	GRCh38
NC_000001.10:g.12025449C>G , CM000663.1:g.12025449C>G	GRCh37
NC_000001.9:g.11948036C>G	NCBI36
NG_008159.1:g.35704C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1471-88C>G MANE Select	ENSP00000196061.4:n.1471-88C>G
ENST00000196061.4:c.1471-88C>G	ENSP00000196061.4:n.1471-88C>G
ENST00000470133.1:n.85-88C>G
ENST00000491536.5:n.99-88C>G
NM_000302.3:c.1471-88C>G	NP_000293.2:n.1471-88C>G
NM_001316320.1:c.1612-88C>G	NP_001303249.1:n.1612-88C>G
XM_011541594.1:c.1552-88C>G	XP_011539896.1:n.1552-88C>G
XM_024447707.1:c.805-88C>G	XP_024303475.1:n.805-88C>G
NM_000302.4:c.1471-88C>G MANE Select	NP_000293.2:n.1471-88C>G
NM_001316320.2:c.1612-88C>G	NP_001303249.1:n.1612-88C>G