Canonical Allele Identifier: CA712959476

Gene: UBR1

Linked Data

• dbSNP Id: rs1276530409
• gnomAD v3: 15-43048297-T-C
• gnomAD v4: 15-43048297-T-C
• MyVariant Identifiers: chr15:g.43340495T>C (hg19) ; chr15:g.43048297T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43048297T>C , CM000677.2:g.43048297T>C	GRCh38
NC_000015.9:g.43340495T>C , CM000677.1:g.43340495T>C	GRCh37
NC_000015.8:g.41127787T>C	NCBI36
NG_012182.1:g.62792A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290650.9:c.1539+95A>G MANE Select	ENSP00000290650.4:n.1539+95A>G
ENST00000290650.8:c.1539+95A>G	ENSP00000290650.4:n.1539+95A>G
ENST00000546274.6:c.1539+95A>G	ENSP00000477932.1:n.1539+95A>G
ENST00000563239.1:c.*203-1008A>G	ENSP00000456502.1:n.*203-1008A>G
ENST00000569971.5:c.410+95A>G	ENSP00000455759.1:n.410+95A>G
NM_174916.2:c.1539+95A>G	NP_777576.1:n.1539+95A>G
NM_174916.3:c.1539+95A>G MANE Select	NP_777576.1:n.1539+95A>G