Canonical Allele Identifier: CA490121022
Gene: UBR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2791765
ClinVar RCV Id: RCV003674672
dbSNP Id: rs569992095
gnomAD v3: 15-43067924-A-G
gnomAD v4: 15-43067924-A-G
MyVariant Identifiers: chr15:g.43360122A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43067924A>G , CM000677.2:g.43067924A>G GRCh38
NC_000015.9:g.43360122A>G , CM000677.1:g.43360122A>G GRCh37
NC_000015.8:g.41147414A>G NCBI36
NG_012182.1:g.43165T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.772T>C MANE Select ENSP00000290650.4:p.Leu258=
ENST00000290650.8:c.772T>C ENSP00000290650.4:p.Leu258=
ENST00000546274.6:c.772T>C ENSP00000477932.1:p.Leu258=
ENST00000563239.1:c.*202+2975T>C ENSP00000456502.1:n.*202+2975T>C
NM_174916.2:c.772T>C NP_777576.1:p.Leu258=
NM_174916.3:c.772T>C MANE Select NP_777576.1:p.Leu258=
Search 100 bp 5'
Search 100 bp 3'