Canonical Allele Identifier: CA392080626
Gene: UBR1 HGNC NCBI

Linked Data

gnomAD v3: 15-43068022-C-A
gnomAD v4: 15-43068022-C-A
MyVariant Identifiers: chr15:g.43360220C>A (hg19) chr15:g.43068022C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43068022C>A , CM000677.2:g.43068022C>A GRCh38
NC_000015.9:g.43360220C>A , CM000677.1:g.43360220C>A GRCh37
NC_000015.8:g.41147512C>A NCBI36
NG_012182.1:g.43067G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.674G>T MANE Select ENSP00000290650.4:p.Arg225Ile
ENST00000290650.8:c.674G>T ENSP00000290650.4:p.Arg225Ile
ENST00000546274.6:c.674G>T ENSP00000477932.1:p.Arg225Ile
ENST00000563239.1:c.*202+2877G>T ENSP00000456502.1:n.*202+2877G>T
NM_174916.2:c.674G>T NP_777576.1:p.Arg225Ile
NM_174916.3:c.674G>T MANE Select NP_777576.1:p.Arg225Ile
Search 100 bp 5'
Search 100 bp 3'