Canonical Allele Identifier: CA7517763
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs376155272
ExAC: 15:43250231 C / G
gnomAD v2: 15-43250231-C-G
gnomAD v4: 15-42958033-C-G
MyVariant Identifiers: chr15:g.43250231C>G (hg19) chr15:g.42958033C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958033C>G , CM000677.2:g.42958033C>G GRCh38
NC_000015.9:g.43250231C>G , CM000677.1:g.43250231C>G GRCh37
NC_000015.8:g.41037523C>G NCBI36
NG_012182.1:g.153056G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4815G>C MANE Select ENSP00000290650.4:p.Leu1605=
ENST00000290650.8:c.4815G>C ENSP00000290650.4:p.Leu1605=
NM_174916.2:c.4815G>C NP_777576.1:p.Leu1605=
NM_174916.3:c.4815G>C MANE Select NP_777576.1:p.Leu1605=
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