Canonical Allele Identifier: CA392069917
Gene: UBR1 HGNC NCBI

Linked Data

gnomAD v4: 15-43048399-C-T
MyVariant Identifiers: chr15:g.43340597C>T (hg19) chr15:g.43048399C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43048399C>T , CM000677.2:g.43048399C>T GRCh38
NC_000015.9:g.43340597C>T , CM000677.1:g.43340597C>T GRCh37
NC_000015.8:g.41127889C>T NCBI36
NG_012182.1:g.62690G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.1532G>A MANE Select ENSP00000290650.4:p.Cys511Tyr
ENST00000290650.8:c.1532G>A ENSP00000290650.4:p.Cys511Tyr
ENST00000546274.6:c.1532G>A ENSP00000477932.1:p.Cys511Tyr
ENST00000563239.1:c.*203-1110G>A ENSP00000456502.1:n.*203-1110G>A
ENST00000569971.5:c.403G>A ENSP00000455759.1:n.403G>A
NM_174916.2:c.1532G>A NP_777576.1:p.Cys511Tyr
NM_174916.3:c.1532G>A MANE Select NP_777576.1:p.Cys511Tyr
Search 100 bp 5'
Search 100 bp 3'