Canonical Allele Identifier: CA647921

Gene: UBR4

Linked Data

• ClinVar Variation Id: 2472933
• ClinVar RCV Id: RCV004264478
• dbSNP Id: rs761245374
• ExAC: 1:19404529 C / T
• gnomAD v2: 1-19404529-C-T
• gnomAD v3: 1-19078035-C-T
• gnomAD v4: 1-19078035-C-T
• COSMIC: COSM5010487 ; COSM5010488 ; COSM5010489 ; COSM5010490
• MyVariant Identifiers: chr1:g.19404529C>T (hg19) ; chr1:g.19078035C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19078035C>T , CM000663.2:g.19078035C>T	GRCh38
NC_000001.10:g.19404529C>T , CM000663.1:g.19404529C>T	GRCh37
NC_000001.9:g.19277116C>T	NCBI36
NG_027669.1:g.137218G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375254.8:c.15265G>A MANE Select	ENSP00000364403.3:p.Ala5089Thr
ENST00000375224.1:c.2386G>A	ENSP00000364372.1:p.Ala796Thr
ENST00000375225.7:c.490G>A	ENSP00000364373.3:p.Ala164Thr
ENST00000375254.7:c.15265G>A	ENSP00000364403.3:p.Ala5089Thr
ENST00000459947.5:n.3272G>A
NM_020765.2:c.15265G>A	NP_065816.2:p.Ala5089Thr
XM_011541108.1:c.15418G>A	XP_011539410.1:p.Ala5140Thr
XM_011541109.1:c.15415G>A	XP_011539411.1:p.Ala5139Thr
XM_011541110.1:c.15415G>A	XP_011539412.1:p.Ala5139Thr
XM_011541111.1:c.15415G>A	XP_011539413.1:p.Ala5139Thr
XM_011541112.1:c.15403G>A	XP_011539414.1:p.Ala5135Thr
XM_011541113.1:c.15400G>A	XP_011539415.1:p.Ala5134Thr
XM_011541114.1:c.15400G>A	XP_011539416.1:p.Ala5134Thr
XM_011541115.1:c.15394G>A	XP_011539417.1:p.Ala5132Thr
XM_011541116.1:c.15385G>A	XP_011539418.1:p.Ala5129Thr
XM_011541117.1:c.15334G>A	XP_011539419.1:p.Ala5112Thr
XM_011541118.1:c.15331G>A	XP_011539420.1:p.Ala5111Thr
XM_011541119.1:c.15298G>A	XP_011539421.1:p.Ala5100Thr
XM_011541120.1:c.15295G>A	XP_011539422.1:p.Ala5099Thr
XM_011541121.1:c.15262G>A	XP_011539423.1:p.Ala5088Thr
XM_011541108.3:c.15532G>A	XP_011539410.2:p.Ala5178Thr
XM_011541109.3:c.15529G>A	XP_011539411.2:p.Ala5177Thr
XM_011541110.3:c.15529G>A	XP_011539412.2:p.Ala5177Thr
XM_011541111.3:c.15529G>A	XP_011539413.2:p.Ala5177Thr
XM_011541112.3:c.15517G>A	XP_011539414.2:p.Ala5173Thr
XM_011541113.3:c.15514G>A	XP_011539415.2:p.Ala5172Thr
XM_011541114.3:c.15514G>A	XP_011539416.2:p.Ala5172Thr
XM_011541115.3:c.15508G>A	XP_011539417.2:p.Ala5170Thr
XM_011541116.3:c.15499G>A	XP_011539418.2:p.Ala5167Thr
XM_011541117.3:c.15448G>A	XP_011539419.2:p.Ala5150Thr
XM_011541118.3:c.15445G>A	XP_011539420.2:p.Ala5149Thr
XM_011541119.3:c.15412G>A	XP_011539421.2:p.Ala5138Thr
XM_011541120.3:c.15409G>A	XP_011539422.2:p.Ala5137Thr
XM_011541121.3:c.15376G>A	XP_011539423.2:p.Ala5126Thr
XM_017000822.2:c.15511G>A	XP_016856311.2:p.Ala5171Thr
XM_017000823.2:c.15484G>A	XP_016856312.2:p.Ala5162Thr
XM_017000824.2:c.15430G>A	XP_016856313.2:p.Ala5144Thr
XM_017000825.2:c.15415G>A	XP_016856314.2:p.Ala5139Thr
XM_017000826.2:c.15412G>A	XP_016856315.2:p.Ala5138Thr
XM_017000827.2:c.15397G>A	XP_016856316.2:p.Ala5133Thr
XM_017000828.2:c.15373G>A	XP_016856317.2:p.Ala5125Thr
XM_017000829.2:c.15325G>A	XP_016856318.2:p.Ala5109Thr
XM_017000830.2:c.15274G>A	XP_016856319.2:p.Ala5092Thr
NM_020765.3:c.15265G>A MANE Select	NP_065816.2:p.Ala5089Thr