Canonical Allele Identifier: CA338748174

Gene: UBR4

Linked Data

• gnomAD v4: 1-19078017-G-T
• MyVariant Identifiers: chr1:g.19404511G>T (hg19) ; chr1:g.19078017G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19078017G>T , CM000663.2:g.19078017G>T	GRCh38
NC_000001.10:g.19404511G>T , CM000663.1:g.19404511G>T	GRCh37
NC_000001.9:g.19277098G>T	NCBI36
NG_027669.1:g.137236C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375254.8:c.15283C>A MANE Select	ENSP00000364403.3:p.Leu5095Ile
ENST00000375224.1:c.2404C>A	ENSP00000364372.1:p.Leu802Ile
ENST00000375225.7:c.508C>A	ENSP00000364373.3:p.Leu170Ile
ENST00000375254.7:c.15283C>A	ENSP00000364403.3:p.Leu5095Ile
ENST00000459947.5:n.3290C>A
NM_020765.2:c.15283C>A	NP_065816.2:p.Leu5095Ile
XM_011541108.1:c.15436C>A	XP_011539410.1:p.Leu5146Ile
XM_011541109.1:c.15433C>A	XP_011539411.1:p.Leu5145Ile
XM_011541110.1:c.15433C>A	XP_011539412.1:p.Leu5145Ile
XM_011541111.1:c.15433C>A	XP_011539413.1:p.Leu5145Ile
XM_011541112.1:c.15421C>A	XP_011539414.1:p.Leu5141Ile
XM_011541113.1:c.15418C>A	XP_011539415.1:p.Leu5140Ile
XM_011541114.1:c.15418C>A	XP_011539416.1:p.Leu5140Ile
XM_011541115.1:c.15412C>A	XP_011539417.1:p.Leu5138Ile
XM_011541116.1:c.15403C>A	XP_011539418.1:p.Leu5135Ile
XM_011541117.1:c.15352C>A	XP_011539419.1:p.Leu5118Ile
XM_011541118.1:c.15349C>A	XP_011539420.1:p.Leu5117Ile
XM_011541119.1:c.15316C>A	XP_011539421.1:p.Leu5106Ile
XM_011541120.1:c.15313C>A	XP_011539422.1:p.Leu5105Ile
XM_011541121.1:c.15280C>A	XP_011539423.1:p.Leu5094Ile
XM_011541108.3:c.15550C>A	XP_011539410.2:p.Leu5184Ile
XM_011541109.3:c.15547C>A	XP_011539411.2:p.Leu5183Ile
XM_011541110.3:c.15547C>A	XP_011539412.2:p.Leu5183Ile
XM_011541111.3:c.15547C>A	XP_011539413.2:p.Leu5183Ile
XM_011541112.3:c.15535C>A	XP_011539414.2:p.Leu5179Ile
XM_011541113.3:c.15532C>A	XP_011539415.2:p.Leu5178Ile
XM_011541114.3:c.15532C>A	XP_011539416.2:p.Leu5178Ile
XM_011541115.3:c.15526C>A	XP_011539417.2:p.Leu5176Ile
XM_011541116.3:c.15517C>A	XP_011539418.2:p.Leu5173Ile
XM_011541117.3:c.15466C>A	XP_011539419.2:p.Leu5156Ile
XM_011541118.3:c.15463C>A	XP_011539420.2:p.Leu5155Ile
XM_011541119.3:c.15430C>A	XP_011539421.2:p.Leu5144Ile
XM_011541120.3:c.15427C>A	XP_011539422.2:p.Leu5143Ile
XM_011541121.3:c.15394C>A	XP_011539423.2:p.Leu5132Ile
XM_017000822.2:c.15529C>A	XP_016856311.2:p.Leu5177Ile
XM_017000823.2:c.15502C>A	XP_016856312.2:p.Leu5168Ile
XM_017000824.2:c.15448C>A	XP_016856313.2:p.Leu5150Ile
XM_017000825.2:c.15433C>A	XP_016856314.2:p.Leu5145Ile
XM_017000826.2:c.15430C>A	XP_016856315.2:p.Leu5144Ile
XM_017000827.2:c.15415C>A	XP_016856316.2:p.Leu5139Ile
XM_017000828.2:c.15391C>A	XP_016856317.2:p.Leu5131Ile
XM_017000829.2:c.15343C>A	XP_016856318.2:p.Leu5115Ile
XM_017000830.2:c.15292C>A	XP_016856319.2:p.Leu5098Ile
NM_020765.3:c.15283C>A MANE Select	NP_065816.2:p.Leu5095Ile