Canonical Allele Identifier: CA290684314

Gene: JUP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41786675C>T , CM000679.2:g.41786675C>T	GRCh38
NC_000017.10:g.39942927C>T , CM000679.1:g.39942927C>T	GRCh37
NC_000017.9:g.37196453C>T	NCBI36
NG_009090.2:g.5038G>A , LRG_401:g.5038G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002230.4:c.-96G>A MANE Select	NP_002221.1:n.-96G>A
ENST00000393931.8:c.-96G>A MANE Select	ENSP00000377508.3:n.-96G>A
NM_001352773.1:c.-118G>A	NP_001339702.1:n.-118G>A
NM_001352773.2:c.-118G>A	NP_001339702.1:n.-118G>A
NM_001352774.1:c.-93G>A	NP_001339703.1:n.-93G>A
NM_001352774.2:c.-93G>A	NP_001339703.1:n.-93G>A
NM_001352775.1:c.-115G>A	NP_001339704.1:n.-115G>A
NM_001352775.2:c.-115G>A	NP_001339704.1:n.-115G>A
NM_001352776.1:c.-205G>A	NP_001339705.1:n.-205G>A
NM_001352776.2:c.-205G>A	NP_001339705.1:n.-205G>A
NM_002230.2:c.-96G>A , LRG_401t2:c.-96G>A	NP_002221.1:n.-96G>A
NM_002230.3:c.-96G>A	NP_002221.1:n.-96G>A
NM_021991.2:c.-96G>A , LRG_401t1:c.-96G>A	NP_068831.1:n.-96G>A
NM_021991.3:c.-96G>A	NP_068831.1:n.-96G>A
NM_021991.4:c.-96G>A	NP_068831.1:n.-96G>A
ENST00000310706.9:c.-96G>A	ENSP00000311113.5:n.-96G>A
ENST00000393931.7:c.-96G>A	ENSP00000377508.3:n.-96G>A
ENST00000424457.5:c.-205G>A	ENSP00000401034.1:n.-205G>A
ENST00000437187.5:c.-9+123G>A	ENSP00000394146.1:n.-9+123G>A
ENST00000589036.1:n.36G>A
ENST00000591690.5:c.-181G>A	ENSP00000468347.1:n.-181G>A
XM_006721873.1:c.-205G>A	XP_006721936.1:n.-205G>A
XM_006721874.1:c.-118G>A	XP_006721937.1:n.-118G>A
XM_006721874.3:c.-118G>A	XP_006721937.1:n.-118G>A
XM_006721875.1:c.-181G>A	XP_006721938.1:n.-181G>A
XM_011524755.1:c.-93G>A	XP_011523057.1:n.-93G>A