Canonical Allele Identifier: CA7518717
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs774341055
ExAC: 15:43340621 C / G
gnomAD v2: 15-43340621-C-G
gnomAD v4: 15-43048423-C-G
MyVariant Identifiers: chr15:g.43340621C>G (hg19) chr15:g.43048423C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43048423C>G , CM000677.2:g.43048423C>G GRCh38
NC_000015.9:g.43340621C>G , CM000677.1:g.43340621C>G GRCh37
NC_000015.8:g.41127913C>G NCBI36
NG_012182.1:g.62666G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.1508G>C MANE Select ENSP00000290650.4:p.Arg503Pro
ENST00000290650.8:c.1508G>C ENSP00000290650.4:p.Arg503Pro
ENST00000546274.6:c.1508G>C ENSP00000477932.1:p.Arg503Pro
ENST00000563239.1:c.*203-1134G>C ENSP00000456502.1:n.*203-1134G>C
ENST00000569971.5:c.379G>C ENSP00000455759.1:n.379G>C
NM_174916.2:c.1508G>C NP_777576.1:p.Arg503Pro
NM_174916.3:c.1508G>C MANE Select NP_777576.1:p.Arg503Pro
Search 100 bp 5'
Search 100 bp 3'