Canonical Allele Identifier: CA269931640
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs765922041
gnomAD v2: 15-43340497-T-C
gnomAD v3: 15-43048299-T-C
gnomAD v4: 15-43048299-T-C
MyVariant Identifiers: chr15:g.43340497T>C (hg19) chr15:g.43048299T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43048299T>C , CM000677.2:g.43048299T>C GRCh38
NC_000015.9:g.43340497T>C , CM000677.1:g.43340497T>C GRCh37
NC_000015.8:g.41127789T>C NCBI36
NG_012182.1:g.62790A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.1539+93A>G MANE Select ENSP00000290650.4:n.1539+93A>G
ENST00000290650.8:c.1539+93A>G ENSP00000290650.4:n.1539+93A>G
ENST00000546274.6:c.1539+93A>G ENSP00000477932.1:n.1539+93A>G
ENST00000563239.1:c.*203-1010A>G ENSP00000456502.1:n.*203-1010A>G
ENST00000569971.5:c.410+93A>G ENSP00000455759.1:n.410+93A>G
NM_174916.2:c.1539+93A>G NP_777576.1:n.1539+93A>G
NM_174916.3:c.1539+93A>G MANE Select NP_777576.1:n.1539+93A>G
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