Canonical Allele Identifier: CA7517733

Gene: UBR1

Linked Data

• ClinVar Variation Id: 1408468
• ClinVar RCV Id: RCV001938054
• dbSNP Id: rs141227308
• ExAC: 15:43244587 G / A
• gnomAD v2: 15-43244587-G-A
• gnomAD v3: 15-42952389-G-A
• gnomAD v4: 15-42952389-G-A
• MyVariant Identifiers: chr15:g.43244587G>A (hg19) ; chr15:g.43244587_43244588delinsAC (hg19) ; chr15:g.42952389G>A (hg38) ; chr15:g.42952389_42952390delinsAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42952389G>A , CM000677.2:g.42952389G>A	GRCh38
NC_000015.9:g.43244587G>A , CM000677.1:g.43244587G>A	GRCh37
NC_000015.8:g.41031879G>A	NCBI36
NG_012182.1:g.158700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290650.9:c.4895C>T MANE Select	ENSP00000290650.4:p.Ala1632Val
ENST00000290650.8:c.4895C>T	ENSP00000290650.4:p.Ala1632Val
NM_174916.2:c.4895C>T	NP_777576.1:p.Ala1632Val
NM_174916.3:c.4895C>T MANE Select	NP_777576.1:p.Ala1632Val