Canonical Allele Identifier: CA2643331046

Gene: PLOD1

Linked Data

• gnomAD v4: 1-11965335-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965335G>T , CM000663.2:g.11965335G>T	GRCh38
NC_000001.10:g.12025392G>T , CM000663.1:g.12025392G>T	GRCh37
NC_000001.9:g.11947979G>T	NCBI36
NG_008159.1:g.35647G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1471-145G>T MANE Select	ENSP00000196061.4:n.1471-145G>T
ENST00000196061.4:c.1471-145G>T	ENSP00000196061.4:n.1471-145G>T
ENST00000470133.1:n.85-145G>T
ENST00000491536.5:n.99-145G>T
NM_000302.3:c.1471-145G>T	NP_000293.2:n.1471-145G>T
NM_001316320.1:c.1612-145G>T	NP_001303249.1:n.1612-145G>T
XM_011541594.1:c.1552-145G>T	XP_011539896.1:n.1552-145G>T
XM_024447707.1:c.805-145G>T	XP_024303475.1:n.805-145G>T
NM_000302.4:c.1471-145G>T MANE Select	NP_000293.2:n.1471-145G>T
NM_001316320.2:c.1612-145G>T	NP_001303249.1:n.1612-145G>T