Canonical Allele Identifier: CA269943693
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs569992095
gnomAD v3: 15-43067924-A-C
gnomAD v4: 15-43067924-A-C
MyVariant Identifiers: chr15:g.43360122A>C (hg19) chr15:g.43067924A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43067924A>C , CM000677.2:g.43067924A>C GRCh38
NC_000015.9:g.43360122A>C , CM000677.1:g.43360122A>C GRCh37
NC_000015.8:g.41147414A>C NCBI36
NG_012182.1:g.43165T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.772T>G MANE Select ENSP00000290650.4:p.Leu258Val
ENST00000290650.8:c.772T>G ENSP00000290650.4:p.Leu258Val
ENST00000546274.6:c.772T>G ENSP00000477932.1:p.Leu258Val
ENST00000563239.1:c.*202+2975T>G ENSP00000456502.1:n.*202+2975T>G
NM_174916.2:c.772T>G NP_777576.1:p.Leu258Val
NM_174916.3:c.772T>G MANE Select NP_777576.1:p.Leu258Val
Search 100 bp 5'
Search 100 bp 3'