Canonical Allele Identifier: CA598407

Gene: PLOD1

Linked Data

• dbSNP Id: rs538428354
• ExAC: 1:12025494 A / T
• gnomAD v2: 1-12025494-A-T
• gnomAD v3: 1-11965437-A-T
• gnomAD v4: 1-11965437-A-T
• MyVariant Identifiers: chr1:g.12025494A>T (hg19) ; chr1:g.11965437A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965437A>T , CM000663.2:g.11965437A>T	GRCh38
NC_000001.10:g.12025494A>T , CM000663.1:g.12025494A>T	GRCh37
NC_000001.9:g.11948081A>T	NCBI36
NG_008159.1:g.35749A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1471-43A>T MANE Select	ENSP00000196061.4:n.1471-43A>T
ENST00000196061.4:c.1471-43A>T	ENSP00000196061.4:n.1471-43A>T
ENST00000470133.1:n.85-43A>T
ENST00000491536.5:n.99-43A>T
NM_000302.3:c.1471-43A>T	NP_000293.2:n.1471-43A>T
NM_001316320.1:c.1612-43A>T	NP_001303249.1:n.1612-43A>T
XM_011541594.1:c.1552-43A>T	XP_011539896.1:n.1552-43A>T
XM_024447707.1:c.805-43A>T	XP_024303475.1:n.805-43A>T
NM_000302.4:c.1471-43A>T MANE Select	NP_000293.2:n.1471-43A>T
NM_001316320.2:c.1612-43A>T	NP_001303249.1:n.1612-43A>T