Canonical Allele Identifier: CA393156649
Gene: UBL7 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.74458804T>C
GRCh37 chr15:g.74751145T>C
Revel Score:
ENST00000361351 0.038
ENST00000395081 (MANE Select) 0.038
gnomAD v2:
15:74751145 T / C
gnomAD v3:
15:74458804 T / C
gnomAD v4:
chr15-74458804-T-C
Joint Max Group AF 0.00001746 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
ClinVar RCV:
RCV004156034
ClinVar Variation:
2310708
dbSNP:
1162947656
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74458804T>C , CM000677.2:g.74458804T>C GRCh38
NC_000015.9:g.74751145T>C , CM000677.1:g.74751145T>C GRCh37
NC_000015.8:g.72538198T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395081.7:c.64A>G MANE Select ENSP00000378518.2:p.Ile22Val
ENST00000361351.8:c.64A>G ENSP00000354883.4:p.Ile22Val
ENST00000395081.6:c.64A>G ENSP00000378518.2:p.Ile22Val
ENST00000563081.1:c.64A>G ENSP00000457920.1:p.Ile22Val
ENST00000564488.5:c.64A>G ENSP00000454828.1:p.Ile22Val
ENST00000565130.5:c.64A>G ENSP00000457828.1:p.Ile22Val
ENST00000565335.5:c.64A>G ENSP00000457708.1:p.Ile22Val
ENST00000567435.5:c.64A>G ENSP00000457703.1:p.Ile22Val
NM_001286739.1:c.64A>G NP_001273668.1:p.Ile22Val
NM_001286740.1:c.64A>G NP_001273669.1:p.Ile22Val
NM_001286741.1:c.184A>G NP_001273670.1:p.Ile62Val
NM_001286742.1:c.184A>G NP_001273671.1:p.Ile62Val
NM_032907.4:c.64A>G NP_116296.1:p.Ile22Val
NM_201265.1:c.64A>G NP_957717.1:p.Ile22Val
XM_011522124.1:c.184A>G XP_011520426.1:p.Ile62Val
XM_011522124.2:c.184A>G XP_011520426.1:p.Ile62Val
XM_024450093.1:c.310A>G XP_024305861.1:p.Ile104Val
NM_032907.5:c.64A>G MANE Select NP_116296.1:p.Ile22Val
NM_001286739.2:c.64A>G NP_001273668.1:p.Ile22Val
NM_001286741.2:c.184A>G NP_001273670.1:p.Ile62Val
NM_001286742.2:c.184A>G NP_001273671.1:p.Ile62Val
NM_201265.2:c.64A>G NP_957717.1:p.Ile22Val
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