Canonical Allele Identifier: CA7517689

Gene: UBR1

Linked Data

• ClinVar Variation Id: 3008255
• ClinVar RCV Id: RCV003866918
• dbSNP Id: rs776965089
• ExAC: 15:43242468 A / G
• gnomAD v2: 15-43242468-A-G
• gnomAD v3: 15-42950270-A-G
• gnomAD v4: 15-42950270-A-G
• MyVariant Identifiers: chr15:g.43242468A>G (hg19) ; chr15:g.43242468_43242469delinsGG (hg19) ; chr15:g.42950270A>G (hg38) ; chr15:g.42950270_42950271delinsGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42950270A>G , CM000677.2:g.42950270A>G	GRCh38
NC_000015.9:g.43242468A>G , CM000677.1:g.43242468A>G	GRCh37
NC_000015.8:g.41029760A>G	NCBI36
NG_012182.1:g.160819T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290650.9:c.5100T>C MANE Select	ENSP00000290650.4:p.Pro1700=
ENST00000290650.8:c.5100T>C	ENSP00000290650.4:p.Pro1700=
ENST00000562173.1:n.305T>C
NM_174916.2:c.5100T>C	NP_777576.1:p.Pro1700=
NM_174916.3:c.5100T>C MANE Select	NP_777576.1:p.Pro1700=