Canonical Allele Identifier: CA10649206

Gene: JUP

Linked Data

• ClinVar Variation Id: 323152
• ClinVar RCV Id: RCV000335635 ; RCV000396423 ; RCV001785565
• dbSNP Id: rs55634776
• gnomAD v2: 17-39911373-C-T
• gnomAD v3: 17-41755121-C-T
• gnomAD v4: 17-41755121-C-T
• MyVariant Identifiers: chr17:g.39911373C>T (hg19) ; chr17:g.41755121C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41755121C>T , CM000679.2:g.41755121C>T	GRCh38
NC_000017.10:g.39911373C>T , CM000679.1:g.39911373C>T	GRCh37
NC_000017.9:g.37164899C>T	NCBI36
NG_009090.2:g.36592G>A , LRG_401:g.36592G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393931.8:c.*623G>A MANE Select	ENSP00000377508.3:n.*623G>A
ENST00000310706.9:c.*326G>A	ENSP00000311113.5:n.*326G>A
ENST00000393930.5:c.*326G>A	ENSP00000377507.1:n.*326G>A
ENST00000393931.7:c.*623G>A	ENSP00000377508.3:n.*623G>A
NM_002230.2:c.*623G>A , LRG_401t2:c.*623G>A	NP_002221.1:n.*623G>A
NM_021991.2:c.*326G>A , LRG_401t1:c.*326G>A	NP_068831.1:n.*326G>A
XM_006721873.1:c.*326G>A	XP_006721936.1:n.*326G>A
XM_006721874.1:c.*326G>A	XP_006721937.1:n.*326G>A
XM_006721875.1:c.*326G>A	XP_006721938.1:n.*326G>A
XM_006721878.1:c.*326G>A	XP_006721941.1:n.*326G>A
XM_011524753.1:c.*326G>A	XP_011523055.1:n.*326G>A
XM_011524754.1:c.*326G>A	XP_011523056.1:n.*326G>A
XM_011524755.1:c.*326G>A	XP_011523057.1:n.*326G>A
XM_011524756.1:c.*326G>A	XP_011523058.1:n.*326G>A
XM_011524757.1:c.*326G>A	XP_011523059.1:n.*326G>A
XM_011524758.1:c.*326G>A	XP_011523060.1:n.*326G>A
NM_001352773.1:c.*623G>A	NP_001339702.1:n.*623G>A
NM_001352774.1:c.*326G>A	NP_001339703.1:n.*326G>A
NM_001352775.1:c.*326G>A	NP_001339704.1:n.*326G>A
NM_001352776.1:c.*326G>A	NP_001339705.1:n.*326G>A
NM_001352777.1:c.*326G>A	NP_001339706.1:n.*326G>A
NM_002230.3:c.*623G>A	NP_002221.1:n.*623G>A
NM_021991.3:c.*326G>A	NP_068831.1:n.*326G>A
XM_006721874.3:c.*326G>A	XP_006721937.1:n.*326G>A
XM_011524753.2:c.*326G>A	XP_011523055.1:n.*326G>A
XM_017024588.2:c.*326G>A	XP_016880077.1:n.*326G>A
XM_017024590.1:c.*326G>A	XP_016880079.1:n.*326G>A
NM_002230.4:c.*623G>A MANE Select	NP_002221.1:n.*623G>A
NM_001352773.2:c.*623G>A	NP_001339702.1:n.*623G>A
NM_001352774.2:c.*326G>A	NP_001339703.1:n.*326G>A
NM_001352775.2:c.*326G>A	NP_001339704.1:n.*326G>A
NM_001352776.2:c.*326G>A	NP_001339705.1:n.*326G>A
NM_001352777.2:c.*326G>A	NP_001339706.1:n.*326G>A
NM_021991.4:c.*326G>A	NP_068831.1:n.*326G>A