Canonical Allele Identifier: CA392080678
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs1322561177
gnomAD v2: 15-43360230-T-C
gnomAD v4: 15-43068032-T-C
MyVariant Identifiers: chr15:g.43360230T>C (hg19) chr15:g.43068032T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43068032T>C , CM000677.2:g.43068032T>C GRCh38
NC_000015.9:g.43360230T>C , CM000677.1:g.43360230T>C GRCh37
NC_000015.8:g.41147522T>C NCBI36
NG_012182.1:g.43057A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.664A>G MANE Select ENSP00000290650.4:p.Lys222Glu
ENST00000290650.8:c.664A>G ENSP00000290650.4:p.Lys222Glu
ENST00000546274.6:c.664A>G ENSP00000477932.1:p.Lys222Glu
ENST00000563239.1:c.*202+2867A>G ENSP00000456502.1:n.*202+2867A>G
NM_174916.2:c.664A>G NP_777576.1:p.Lys222Glu
NM_174916.3:c.664A>G MANE Select NP_777576.1:p.Lys222Glu
Search 100 bp 5'
Search 100 bp 3'