Canonical Allele Identifier: CA2628084746

Gene: UBR1

Linked Data

• gnomAD v4: 15-43048321-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43048321G>C , CM000677.2:g.43048321G>C	GRCh38
NC_000015.9:g.43340519G>C , CM000677.1:g.43340519G>C	GRCh37
NC_000015.8:g.41127811G>C	NCBI36
NG_012182.1:g.62768C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290650.9:c.1539+71C>G MANE Select	ENSP00000290650.4:n.1539+71C>G
ENST00000290650.8:c.1539+71C>G	ENSP00000290650.4:n.1539+71C>G
ENST00000546274.6:c.1539+71C>G	ENSP00000477932.1:n.1539+71C>G
ENST00000563239.1:c.*203-1032C>G	ENSP00000456502.1:n.*203-1032C>G
ENST00000569971.5:c.410+71C>G	ENSP00000455759.1:n.410+71C>G
NM_174916.2:c.1539+71C>G	NP_777576.1:n.1539+71C>G
NM_174916.3:c.1539+71C>G MANE Select	NP_777576.1:n.1539+71C>G