Canonical Allele Identifier: CA308561
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 201830
ClinVar RCV Id: RCV000183508 RCV000656182 RCV002399672
dbSNP Id: rs794729052
MyVariant Identifiers: chr17:g.39923767T>C (hg19) chr17:g.41767515T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41767515T>C , CM000679.2:g.41767515T>C GRCh38
NC_000017.10:g.39923767T>C , CM000679.1:g.39923767T>C GRCh37
NC_000017.9:g.37177293T>C NCBI36
NG_009090.2:g.24198A>G , LRG_401:g.24198A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000393931.8:c.773A>G MANE Select ENSP00000377508.3:p.Glu258Gly
ENST00000310706.9:c.773A>G ENSP00000311113.5:p.Glu258Gly
ENST00000393930.5:c.773A>G ENSP00000377507.1:p.Glu258Gly
ENST00000393931.7:c.773A>G ENSP00000377508.3:p.Glu258Gly
ENST00000420370.5:c.773A>G ENSP00000411449.1:p.Glu258Gly
ENST00000437187.5:c.773A>G ENSP00000394146.1:p.Glu258Gly
ENST00000449889.5:c.773A>G ENSP00000389886.1:p.Glu258Gly
NM_002230.2:c.773A>G , LRG_401t2:c.773A>G NP_002221.1:p.Glu258Gly
NM_021991.2:c.773A>G , LRG_401t1:c.773A>G NP_068831.1:p.Glu258Gly
XM_006721873.1:c.773A>G XP_006721936.1:p.Glu258Gly
XM_006721874.1:c.773A>G XP_006721937.1:p.Glu258Gly
XM_006721875.1:c.773A>G XP_006721938.1:p.Glu258Gly
XM_006721878.1:c.773A>G XP_006721941.1:p.Glu258Gly
XM_011524753.1:c.773A>G XP_011523055.1:p.Glu258Gly
XM_011524754.1:c.773A>G XP_011523056.1:p.Glu258Gly
XM_011524755.1:c.773A>G XP_011523057.1:p.Glu258Gly
XM_011524756.1:c.773A>G XP_011523058.1:p.Glu258Gly
XM_011524757.1:c.773A>G XP_011523059.1:p.Glu258Gly
XM_011524758.1:c.773A>G XP_011523060.1:p.Glu258Gly
NM_001352773.1:c.773A>G NP_001339702.1:p.Glu258Gly
NM_001352774.1:c.773A>G NP_001339703.1:p.Glu258Gly
NM_001352775.1:c.773A>G NP_001339704.1:p.Glu258Gly
NM_001352776.1:c.773A>G NP_001339705.1:p.Glu258Gly
NM_001352777.1:c.773A>G NP_001339706.1:p.Glu258Gly
NM_002230.3:c.773A>G NP_002221.1:p.Glu258Gly
NM_021991.3:c.773A>G NP_068831.1:p.Glu258Gly
XM_006721874.3:c.773A>G XP_006721937.1:p.Glu258Gly
XM_011524753.2:c.773A>G XP_011523055.1:p.Glu258Gly
XM_017024588.2:c.824A>G XP_016880077.1:p.Glu275Gly
XM_017024590.1:c.773A>G XP_016880079.1:p.Glu258Gly
NM_002230.4:c.773A>G MANE Select NP_002221.1:p.Glu258Gly
NM_001352773.2:c.773A>G NP_001339702.1:p.Glu258Gly
NM_001352774.2:c.773A>G NP_001339703.1:p.Glu258Gly
NM_001352775.2:c.773A>G NP_001339704.1:p.Glu258Gly
NM_001352776.2:c.773A>G NP_001339705.1:p.Glu258Gly
NM_001352777.2:c.773A>G NP_001339706.1:p.Glu258Gly
NM_021991.4:c.773A>G NP_068831.1:p.Glu258Gly
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