Canonical Allele Identifier: CA392080650
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs1224339094
gnomAD v2: 15-43360224-C-T
gnomAD v4: 15-43068026-C-T
MyVariant Identifiers: chr15:g.43360224C>T (hg19) chr15:g.43068026C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43068026C>T , CM000677.2:g.43068026C>T GRCh38
NC_000015.9:g.43360224C>T , CM000677.1:g.43360224C>T GRCh37
NC_000015.8:g.41147516C>T NCBI36
NG_012182.1:g.43063G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.670G>A MANE Select ENSP00000290650.4:p.Glu224Lys
ENST00000290650.8:c.670G>A ENSP00000290650.4:p.Glu224Lys
ENST00000546274.6:c.670G>A ENSP00000477932.1:p.Glu224Lys
ENST00000563239.1:c.*202+2873G>A ENSP00000456502.1:n.*202+2873G>A
NM_174916.2:c.670G>A NP_777576.1:p.Glu224Lys
NM_174916.3:c.670G>A MANE Select NP_777576.1:p.Glu224Lys
Search 100 bp 5'
Search 100 bp 3'