Canonical Allele Identifier: CA2260177335

Gene: JUP

Linked Data

• dbSNP Id: rs1916706033
• gnomAD v4: 17-41771857-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41771857T>G , CM000679.2:g.41771857T>G	GRCh38
NC_000017.10:g.39928109T>G , CM000679.1:g.39928109T>G	GRCh37
NC_000017.9:g.37181635T>G	NCBI36
NG_009090.2:g.19856A>C , LRG_401:g.19856A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393931.8:c.-3A>C MANE Select	ENSP00000377508.3:n.-3A>C
ENST00000310706.9:c.-3A>C	ENSP00000311113.5:n.-3A>C
ENST00000393930.5:c.-3A>C	ENSP00000377507.1:n.-3A>C
ENST00000393931.7:c.-3A>C	ENSP00000377508.3:n.-3A>C
ENST00000420370.5:c.-3A>C	ENSP00000411449.1:n.-3A>C
ENST00000424457.5:c.-3A>C	ENSP00000401034.1:n.-3A>C
ENST00000437187.5:c.-3A>C	ENSP00000394146.1:n.-3A>C
ENST00000437369.5:c.-3A>C	ENSP00000409948.1:n.-3A>C
ENST00000449889.5:c.-3A>C	ENSP00000389886.1:n.-3A>C
ENST00000465293.1:c.-3A>C	ENSP00000467065.1:n.-3A>C
ENST00000589036.1:n.126A>C
ENST00000591690.5:c.-3A>C	ENSP00000468347.1:n.-3A>C
NM_002230.2:c.-3A>C , LRG_401t2:c.-3A>C	NP_002221.1:n.-3A>C
NM_021991.2:c.-3A>C , LRG_401t1:c.-3A>C	NP_068831.1:n.-3A>C
XM_006721873.1:c.-3A>C	XP_006721936.1:n.-3A>C
XM_006721874.1:c.-3A>C	XP_006721937.1:n.-3A>C
XM_006721875.1:c.-3A>C	XP_006721938.1:n.-3A>C
XM_006721878.1:c.-3A>C	XP_006721941.1:n.-3A>C
XM_011524753.1:c.-3A>C	XP_011523055.1:n.-3A>C
XM_011524754.1:c.-3A>C	XP_011523056.1:n.-3A>C
XM_011524755.1:c.-3A>C	XP_011523057.1:n.-3A>C
XM_011524756.1:c.-3A>C	XP_011523058.1:n.-3A>C
XM_011524757.1:c.-3A>C	XP_011523059.1:n.-3A>C
XM_011524758.1:c.-3A>C	XP_011523060.1:n.-3A>C
NM_001352773.1:c.-3A>C	NP_001339702.1:n.-3A>C
NM_001352774.1:c.-3A>C	NP_001339703.1:n.-3A>C
NM_001352775.1:c.-3A>C	NP_001339704.1:n.-3A>C
NM_001352776.1:c.-3A>C	NP_001339705.1:n.-3A>C
NM_001352777.1:c.-3A>C	NP_001339706.1:n.-3A>C
NM_002230.3:c.-3A>C	NP_002221.1:n.-3A>C
NM_021991.3:c.-3A>C	NP_068831.1:n.-3A>C
XM_006721874.3:c.-3A>C	XP_006721937.1:n.-3A>C
XM_011524753.2:c.-3A>C	XP_011523055.1:n.-3A>C
XM_017024588.2:c.49A>C	XP_016880077.1:p.Thr17Pro
XM_017024590.1:c.-3A>C	XP_016880079.1:n.-3A>C
NM_002230.4:c.-3A>C MANE Select	NP_002221.1:n.-3A>C
NM_001352773.2:c.-3A>C	NP_001339702.1:n.-3A>C
NM_001352774.2:c.-3A>C	NP_001339703.1:n.-3A>C
NM_001352775.2:c.-3A>C	NP_001339704.1:n.-3A>C
NM_001352776.2:c.-3A>C	NP_001339705.1:n.-3A>C
NM_001352777.2:c.-3A>C	NP_001339706.1:n.-3A>C
NM_021991.4:c.-3A>C	NP_068831.1:n.-3A>C