Canonical Allele Identifier: CA998645027

Gene: PLOD1

Linked Data

• dbSNP Id: rs1645809151
• gnomAD v3: 1-11965413-G-T
• gnomAD v4: 1-11965413-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965413G>T , CM000663.2:g.11965413G>T	GRCh38
NC_000001.10:g.12025470G>T , CM000663.1:g.12025470G>T	GRCh37
NC_000001.9:g.11948057G>T	NCBI36
NG_008159.1:g.35725G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1471-67G>T MANE Select	ENSP00000196061.4:n.1471-67G>T
ENST00000196061.4:c.1471-67G>T	ENSP00000196061.4:n.1471-67G>T
ENST00000470133.1:n.85-67G>T
ENST00000491536.5:n.99-67G>T
NM_000302.3:c.1471-67G>T	NP_000293.2:n.1471-67G>T
NM_001316320.1:c.1612-67G>T	NP_001303249.1:n.1612-67G>T
XM_011541594.1:c.1552-67G>T	XP_011539896.1:n.1552-67G>T
XM_024447707.1:c.805-67G>T	XP_024303475.1:n.805-67G>T
NM_000302.4:c.1471-67G>T MANE Select	NP_000293.2:n.1471-67G>T
NM_001316320.2:c.1612-67G>T	NP_001303249.1:n.1612-67G>T