Canonical Allele Identifier: CA18014478

Gene: PLOD1

Linked Data

• dbSNP Id: rs1036296631
• gnomAD v4: 1-11965627-C-T
• MyVariant Identifiers: chr1:g.12025684C>T (hg19) ; chr1:g.11965627C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965627C>T , CM000663.2:g.11965627C>T	GRCh38
NC_000001.10:g.12025684C>T , CM000663.1:g.12025684C>T	GRCh37
NC_000001.9:g.11948271C>T	NCBI36
NG_008159.1:g.35939C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1584+34C>T MANE Select	ENSP00000196061.4:n.1584+34C>T
ENST00000196061.4:c.1584+34C>T	ENSP00000196061.4:n.1584+34C>T
ENST00000470133.1:n.198+34C>T
ENST00000491536.5:n.212+34C>T
NM_000302.3:c.1584+34C>T	NP_000293.2:n.1584+34C>T
NM_001316320.1:c.1725+34C>T	NP_001303249.1:n.1725+34C>T
XM_011541594.1:c.1665+34C>T	XP_011539896.1:n.1665+34C>T
XM_024447707.1:c.918+34C>T	XP_024303475.1:n.918+34C>T
NM_000302.4:c.1584+34C>T MANE Select	NP_000293.2:n.1584+34C>T
NM_001316320.2:c.1725+34C>T	NP_001303249.1:n.1725+34C>T