Canonical Allele Identifier: CA10606122
Gene: PLOD1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.11964787T>C
GRCh37 chr1:g.12024844T>C
gnomAD v2:
1:12024844 T / C
gnomAD v4:
chr1-11964787-T-C
Joint Max Group AF 0.00000292 (NFE)
Exomes Max Group AF 0.00000309 (NFE)
ClinVar Allele:
272765
ClinVar RCV:
RCV000348218
RCV001038850
ClinVar Variation:
288528
dbSNP:
886043927
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11964787T>C , CM000663.2:g.11964787T>C GRCh38
NC_000001.10:g.12024844T>C , CM000663.1:g.12024844T>C GRCh37
NC_000001.9:g.11947431T>C NCBI36
NG_008159.1:g.35099T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.1470+2T>C MANE Select ENSP00000196061.4:n.1470+2T>C
ENST00000196061.4:c.1470+2T>C ENSP00000196061.4:n.1470+2T>C
ENST00000470133.1:n.84+2T>C
ENST00000491536.5:n.98+2T>C
NM_000302.3:c.1470+2T>C NP_000293.2:n.1470+2T>C
NM_001316320.1:c.1611+2T>C NP_001303249.1:n.1611+2T>C
XM_011541594.1:c.1551+2T>C XP_011539896.1:n.1551+2T>C
XM_024447707.1:c.804+2T>C XP_024303475.1:n.804+2T>C
NM_000302.4:c.1470+2T>C MANE Select NP_000293.2:n.1470+2T>C
NM_001316320.2:c.1611+2T>C NP_001303249.1:n.1611+2T>C
Search 100 bp 5'
Search 100 bp 3'