Canonical Allele Identifier: CA598417

Gene: PLOD1

Linked Data

• dbSNP Id: rs571882791
• ExAC: 1:12025511 T / C
• gnomAD v2: 1-12025511-T-C
• gnomAD v3: 1-11965454-T-C
• gnomAD v4: 1-11965454-T-C
• MyVariant Identifiers: chr1:g.12025511T>C (hg19) ; chr1:g.11965454T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11965454T>C , CM000663.2:g.11965454T>C	GRCh38
NC_000001.10:g.12025511T>C , CM000663.1:g.12025511T>C	GRCh37
NC_000001.9:g.11948098T>C	NCBI36
NG_008159.1:g.35766T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.1471-26T>C MANE Select	ENSP00000196061.4:n.1471-26T>C
ENST00000196061.4:c.1471-26T>C	ENSP00000196061.4:n.1471-26T>C
ENST00000470133.1:n.85-26T>C
ENST00000491536.5:n.99-26T>C
NM_000302.3:c.1471-26T>C	NP_000293.2:n.1471-26T>C
NM_001316320.1:c.1612-26T>C	NP_001303249.1:n.1612-26T>C
XM_011541594.1:c.1552-26T>C	XP_011539896.1:n.1552-26T>C
XM_024447707.1:c.805-26T>C	XP_024303475.1:n.805-26T>C
NM_000302.4:c.1471-26T>C MANE Select	NP_000293.2:n.1471-26T>C
NM_001316320.2:c.1612-26T>C	NP_001303249.1:n.1612-26T>C