Canonical Allele Identifier: CA7518195

Gene: UBR1

Linked Data

• ClinVar Variation Id: 235664
• ClinVar RCV Id: RCV000224677 ; RCV000504515 ; RCV003137831 ; RCV003937877
• dbSNP Id: rs142285781
• ExAC: 15:43299402 G / A
• gnomAD v2: 15-43299402-G-A
• gnomAD v3: 15-43007204-G-A
• gnomAD v4: 15-43007204-G-A
• COSMIC: COSM1372964
• MyVariant Identifiers: chr15:g.43299402G>A (hg19) ; chr15:g.43007204G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43007204G>A , CM000677.2:g.43007204G>A	GRCh38
NC_000015.9:g.43299402G>A , CM000677.1:g.43299402G>A	GRCh37
NC_000015.8:g.41086694G>A	NCBI36
NG_012182.1:g.103885C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290650.9:c.3290C>T MANE Select	ENSP00000290650.4:p.Thr1097Met
ENST00000290650.8:c.3290C>T	ENSP00000290650.4:p.Thr1097Met
ENST00000568782.1:n.263C>T
NM_174916.2:c.3290C>T	NP_777576.1:p.Thr1097Met
NM_174916.3:c.3290C>T MANE Select	NP_777576.1:p.Thr1097Met