Canonical Allele Identifier: CA392080021
Gene: UBR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.43360125G>T (hg19) chr15:g.43067927G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43067927G>T , CM000677.2:g.43067927G>T GRCh38
NC_000015.9:g.43360125G>T , CM000677.1:g.43360125G>T GRCh37
NC_000015.8:g.41147417G>T NCBI36
NG_012182.1:g.43162C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.769C>A MANE Select ENSP00000290650.4:p.Gln257Lys
ENST00000290650.8:c.769C>A ENSP00000290650.4:p.Gln257Lys
ENST00000546274.6:c.769C>A ENSP00000477932.1:p.Gln257Lys
ENST00000563239.1:c.*202+2972C>A ENSP00000456502.1:n.*202+2972C>A
NM_174916.2:c.769C>A NP_777576.1:p.Gln257Lys
NM_174916.3:c.769C>A MANE Select NP_777576.1:p.Gln257Lys
Search 100 bp 5'
Search 100 bp 3'