Canonical Allele Identifier: CA626025192

Gene: JUP

Linked Data

• dbSNP Id: rs1555597298
• gnomAD v2: 17-39911981-C-A
• gnomAD v4: 17-41755729-C-A
• MyVariant Identifiers: chr17:g.39911981C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41755729C>A , CM000679.2:g.41755729C>A	GRCh38
NC_000017.10:g.39911981C>A , CM000679.1:g.39911981C>A	GRCh37
NC_000017.9:g.37165507C>A	NCBI36
NG_009090.2:g.35984G>T , LRG_401:g.35984G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393931.8:c.*15G>T MANE Select	ENSP00000377508.3:n.*15G>T
ENST00000310706.9:c.*14+1G>T	ENSP00000311113.5:n.*14+1G>T
ENST00000393930.5:c.*14+1G>T	ENSP00000377507.1:n.*14+1G>T
ENST00000393931.7:c.*15G>T	ENSP00000377508.3:n.*15G>T
NM_002230.2:c.*15G>T , LRG_401t2:c.*15G>T	NP_002221.1:n.*15G>T
NM_021991.2:c.*14+1G>T , LRG_401t1:c.*14+1G>T	NP_068831.1:n.*14+1G>T
XM_006721873.1:c.*14+1G>T	XP_006721936.1:n.*14+1G>T
XM_006721874.1:c.*14+1G>T	XP_006721937.1:n.*14+1G>T
XM_006721875.1:c.*14+1G>T	XP_006721938.1:n.*14+1G>T
XM_006721878.1:c.*14+1G>T	XP_006721941.1:n.*14+1G>T
XM_011524753.1:c.*14+1G>T	XP_011523055.1:n.*14+1G>T
XM_011524754.1:c.*14+1G>T	XP_011523056.1:n.*14+1G>T
XM_011524755.1:c.*14+1G>T	XP_011523057.1:n.*14+1G>T
XM_011524756.1:c.*14+1G>T	XP_011523058.1:n.*14+1G>T
XM_011524757.1:c.*14+1G>T	XP_011523059.1:n.*14+1G>T
XM_011524758.1:c.*14+1G>T	XP_011523060.1:n.*14+1G>T
NM_001352773.1:c.*15G>T	NP_001339702.1:n.*15G>T
NM_001352774.1:c.*14+1G>T	NP_001339703.1:n.*14+1G>T
NM_001352775.1:c.*14+1G>T	NP_001339704.1:n.*14+1G>T
NM_001352776.1:c.*14+1G>T	NP_001339705.1:n.*14+1G>T
NM_001352777.1:c.*14+1G>T	NP_001339706.1:n.*14+1G>T
NM_002230.3:c.*15G>T	NP_002221.1:n.*15G>T
NM_021991.3:c.*14+1G>T	NP_068831.1:n.*14+1G>T
XM_006721874.3:c.*14+1G>T	XP_006721937.1:n.*14+1G>T
XM_011524753.2:c.*14+1G>T	XP_011523055.1:n.*14+1G>T
XM_017024588.2:c.*14+1G>T	XP_016880077.1:n.*14+1G>T
XM_017024590.1:c.*14+1G>T	XP_016880079.1:n.*14+1G>T
NM_002230.4:c.*15G>T MANE Select	NP_002221.1:n.*15G>T
NM_001352773.2:c.*15G>T	NP_001339702.1:n.*15G>T
NM_001352774.2:c.*14+1G>T	NP_001339703.1:n.*14+1G>T
NM_001352775.2:c.*14+1G>T	NP_001339704.1:n.*14+1G>T
NM_001352776.2:c.*14+1G>T	NP_001339705.1:n.*14+1G>T
NM_001352777.2:c.*14+1G>T	NP_001339706.1:n.*14+1G>T
NM_021991.4:c.*14+1G>T	NP_068831.1:n.*14+1G>T