Canonical Allele Identifier: CA392070071

Gene: UBR1

Linked Data

• MyVariant Identifiers: chr15:g.43340618G>A (hg19) ; chr15:g.43048420G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43048420G>A , CM000677.2:g.43048420G>A	GRCh38
NC_000015.9:g.43340618G>A , CM000677.1:g.43340618G>A	GRCh37
NC_000015.8:g.41127910G>A	NCBI36
NG_012182.1:g.62669C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290650.9:c.1511C>T MANE Select	ENSP00000290650.4:p.Ser504Phe
ENST00000290650.8:c.1511C>T	ENSP00000290650.4:p.Ser504Phe
ENST00000546274.6:c.1511C>T	ENSP00000477932.1:p.Ser504Phe
ENST00000563239.1:c.*203-1131C>T	ENSP00000456502.1:n.*203-1131C>T
ENST00000569971.5:c.382C>T	ENSP00000455759.1:n.382C>T
NM_174916.2:c.1511C>T	NP_777576.1:p.Ser504Phe
NM_174916.3:c.1511C>T MANE Select	NP_777576.1:p.Ser504Phe