Canonical Allele Identifier: CA712959477
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs1437189122
gnomAD v3: 15-43048298-T-G
gnomAD v4: 15-43048298-T-G
MyVariant Identifiers: chr15:g.43340496T>G (hg19) chr15:g.43048298T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43048298T>G , CM000677.2:g.43048298T>G GRCh38
NC_000015.9:g.43340496T>G , CM000677.1:g.43340496T>G GRCh37
NC_000015.8:g.41127788T>G NCBI36
NG_012182.1:g.62791A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.1539+94A>C MANE Select ENSP00000290650.4:n.1539+94A>C
ENST00000290650.8:c.1539+94A>C ENSP00000290650.4:n.1539+94A>C
ENST00000546274.6:c.1539+94A>C ENSP00000477932.1:n.1539+94A>C
ENST00000563239.1:c.*203-1009A>C ENSP00000456502.1:n.*203-1009A>C
ENST00000569971.5:c.410+94A>C ENSP00000455759.1:n.410+94A>C
NM_174916.2:c.1539+94A>C NP_777576.1:n.1539+94A>C
NM_174916.3:c.1539+94A>C MANE Select NP_777576.1:n.1539+94A>C
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