Canonical Allele Identifier: CA392058120
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs1389632292
gnomAD v2: 15-43250276-T-G
gnomAD v4: 15-42958078-T-G
MyVariant Identifiers: chr15:g.43250276T>G (hg19) chr15:g.42958078T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958078T>G , CM000677.2:g.42958078T>G GRCh38
NC_000015.9:g.43250276T>G , CM000677.1:g.43250276T>G GRCh37
NC_000015.8:g.41037568T>G NCBI36
NG_012182.1:g.153011A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4770A>C MANE Select ENSP00000290650.4:p.Lys1590Asn
ENST00000290650.8:c.4770A>C ENSP00000290650.4:p.Lys1590Asn
NM_174916.2:c.4770A>C NP_777576.1:p.Lys1590Asn
NM_174916.3:c.4770A>C MANE Select NP_777576.1:p.Lys1590Asn
Search 100 bp 5'
Search 100 bp 3'