Canonical Allele Identifier: CA969167717

Gene: UBR1

Linked Data

• dbSNP Id: rs907370131
• gnomAD v3: 15-43048349-A-G
• gnomAD v4: 15-43048349-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43048349A>G , CM000677.2:g.43048349A>G	GRCh38
NC_000015.9:g.43340547A>G , CM000677.1:g.43340547A>G	GRCh37
NC_000015.8:g.41127839A>G	NCBI36
NG_012182.1:g.62740T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290650.9:c.1539+43T>C MANE Select	ENSP00000290650.4:n.1539+43T>C
ENST00000290650.8:c.1539+43T>C	ENSP00000290650.4:n.1539+43T>C
ENST00000546274.6:c.1539+43T>C	ENSP00000477932.1:n.1539+43T>C
ENST00000563239.1:c.*203-1060T>C	ENSP00000456502.1:n.*203-1060T>C
ENST00000569971.5:c.410+43T>C	ENSP00000455759.1:n.410+43T>C
NM_174916.2:c.1539+43T>C	NP_777576.1:n.1539+43T>C
NM_174916.3:c.1539+43T>C MANE Select	NP_777576.1:n.1539+43T>C