Canonical Allele Identifier: CA617631795

Gene: UBR1

Linked Data

• dbSNP Id: rs1330147208
• gnomAD v2: 15-43250181-T-C
• gnomAD v4: 15-42957983-T-C
• MyVariant Identifiers: chr15:g.43250181T>C (hg19) ; chr15:g.42957983T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42957983T>C , CM000677.2:g.42957983T>C	GRCh38
NC_000015.9:g.43250181T>C , CM000677.1:g.43250181T>C	GRCh37
NC_000015.8:g.41037473T>C	NCBI36
NG_012182.1:g.153106A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290650.9:c.4835+30A>G MANE Select	ENSP00000290650.4:n.4835+30A>G
ENST00000290650.8:c.4835+30A>G	ENSP00000290650.4:n.4835+30A>G
NM_174916.2:c.4835+30A>G	NP_777576.1:n.4835+30A>G
NM_174916.3:c.4835+30A>G MANE Select	NP_777576.1:n.4835+30A>G