Canonical Allele Identifier: CA399505224

Gene: JUP

Linked Data

• ClinVar Variation Id: 2625419
• ClinVar RCV Id: RCV003380178
• dbSNP Id: rs1278511367
• MyVariant Identifiers: chr17:g.39925768T>A (hg19) ; chr17:g.41769516T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41769516T>A , CM000679.2:g.41769516T>A	GRCh38
NC_000017.10:g.39925768T>A , CM000679.1:g.39925768T>A	GRCh37
NC_000017.9:g.37179294T>A	NCBI36
NG_009090.2:g.22197A>T , LRG_401:g.22197A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393931.8:c.370A>T MANE Select	ENSP00000377508.3:p.Lys124Ter
ENST00000310706.9:c.370A>T	ENSP00000311113.5:p.Lys124Ter
ENST00000393930.5:c.370A>T	ENSP00000377507.1:p.Lys124Ter
ENST00000393931.7:c.370A>T	ENSP00000377508.3:p.Lys124Ter
ENST00000420370.5:c.370A>T	ENSP00000411449.1:p.Lys124Ter
ENST00000424457.5:c.370A>T	ENSP00000401034.1:p.Lys124Ter
ENST00000437187.5:c.370A>T	ENSP00000394146.1:p.Lys124Ter
ENST00000449889.5:c.370A>T	ENSP00000389886.1:p.Lys124Ter
NM_002230.2:c.370A>T , LRG_401t2:c.370A>T	NP_002221.1:p.Lys124Ter
NM_021991.2:c.370A>T , LRG_401t1:c.370A>T	NP_068831.1:p.Lys124Ter
XM_006721873.1:c.370A>T	XP_006721936.1:p.Lys124Ter
XM_006721874.1:c.370A>T	XP_006721937.1:p.Lys124Ter
XM_006721875.1:c.370A>T	XP_006721938.1:p.Lys124Ter
XM_006721878.1:c.370A>T	XP_006721941.1:p.Lys124Ter
XM_011524753.1:c.370A>T	XP_011523055.1:p.Lys124Ter
XM_011524754.1:c.370A>T	XP_011523056.1:p.Lys124Ter
XM_011524755.1:c.370A>T	XP_011523057.1:p.Lys124Ter
XM_011524756.1:c.370A>T	XP_011523058.1:p.Lys124Ter
XM_011524757.1:c.370A>T	XP_011523059.1:p.Lys124Ter
XM_011524758.1:c.370A>T	XP_011523060.1:p.Lys124Ter
NM_001352773.1:c.370A>T	NP_001339702.1:p.Lys124Ter
NM_001352774.1:c.370A>T	NP_001339703.1:p.Lys124Ter
NM_001352775.1:c.370A>T	NP_001339704.1:p.Lys124Ter
NM_001352776.1:c.370A>T	NP_001339705.1:p.Lys124Ter
NM_001352777.1:c.370A>T	NP_001339706.1:p.Lys124Ter
NM_002230.3:c.370A>T	NP_002221.1:p.Lys124Ter
NM_021991.3:c.370A>T	NP_068831.1:p.Lys124Ter
XM_006721874.3:c.370A>T	XP_006721937.1:p.Lys124Ter
XM_011524753.2:c.370A>T	XP_011523055.1:p.Lys124Ter
XM_017024588.2:c.421A>T	XP_016880077.1:p.Lys141Ter
XM_017024590.1:c.370A>T	XP_016880079.1:p.Lys124Ter
NM_002230.4:c.370A>T MANE Select	NP_002221.1:p.Lys124Ter
NM_001352773.2:c.370A>T	NP_001339702.1:p.Lys124Ter
NM_001352774.2:c.370A>T	NP_001339703.1:p.Lys124Ter
NM_001352775.2:c.370A>T	NP_001339704.1:p.Lys124Ter
NM_001352776.2:c.370A>T	NP_001339705.1:p.Lys124Ter
NM_001352777.2:c.370A>T	NP_001339706.1:p.Lys124Ter
NM_021991.4:c.370A>T	NP_068831.1:p.Lys124Ter