Canonical Allele Identifier: CA772059878

Gene: JUP

Linked Data

• dbSNP Id: rs1438136817
• gnomAD v4: 17-41755708-G-T
• MyVariant Identifiers: chr17:g.41755708G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41755708G>T , CM000679.2:g.41755708G>T	GRCh38
NC_000017.10:g.39911960G>T , CM000679.1:g.39911960G>T	GRCh37
NC_000017.9:g.37165486G>T	NCBI36
NG_009090.2:g.36005C>A , LRG_401:g.36005C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000393931.8:c.*36C>A MANE Select	ENSP00000377508.3:n.*36C>A
ENST00000310706.9:c.*14+22C>A	ENSP00000311113.5:n.*14+22C>A
ENST00000393930.5:c.*14+22C>A	ENSP00000377507.1:n.*14+22C>A
ENST00000393931.7:c.*36C>A	ENSP00000377508.3:n.*36C>A
NM_002230.2:c.*36C>A , LRG_401t2:c.*36C>A	NP_002221.1:n.*36C>A
NM_021991.2:c.*14+22C>A , LRG_401t1:c.*14+22C>A	NP_068831.1:n.*14+22C>A
XM_006721873.1:c.*14+22C>A	XP_006721936.1:n.*14+22C>A
XM_006721874.1:c.*14+22C>A	XP_006721937.1:n.*14+22C>A
XM_006721875.1:c.*14+22C>A	XP_006721938.1:n.*14+22C>A
XM_006721878.1:c.*14+22C>A	XP_006721941.1:n.*14+22C>A
XM_011524753.1:c.*14+22C>A	XP_011523055.1:n.*14+22C>A
XM_011524754.1:c.*14+22C>A	XP_011523056.1:n.*14+22C>A
XM_011524755.1:c.*14+22C>A	XP_011523057.1:n.*14+22C>A
XM_011524756.1:c.*14+22C>A	XP_011523058.1:n.*14+22C>A
XM_011524757.1:c.*14+22C>A	XP_011523059.1:n.*14+22C>A
XM_011524758.1:c.*14+22C>A	XP_011523060.1:n.*14+22C>A
NM_001352773.1:c.*36C>A	NP_001339702.1:n.*36C>A
NM_001352774.1:c.*14+22C>A	NP_001339703.1:n.*14+22C>A
NM_001352775.1:c.*14+22C>A	NP_001339704.1:n.*14+22C>A
NM_001352776.1:c.*14+22C>A	NP_001339705.1:n.*14+22C>A
NM_001352777.1:c.*14+22C>A	NP_001339706.1:n.*14+22C>A
NM_002230.3:c.*36C>A	NP_002221.1:n.*36C>A
NM_021991.3:c.*14+22C>A	NP_068831.1:n.*14+22C>A
XM_006721874.3:c.*14+22C>A	XP_006721937.1:n.*14+22C>A
XM_011524753.2:c.*14+22C>A	XP_011523055.1:n.*14+22C>A
XM_017024588.2:c.*14+22C>A	XP_016880077.1:n.*14+22C>A
XM_017024590.1:c.*14+22C>A	XP_016880079.1:n.*14+22C>A
NM_002230.4:c.*36C>A MANE Select	NP_002221.1:n.*36C>A
NM_001352773.2:c.*36C>A	NP_001339702.1:n.*36C>A
NM_001352774.2:c.*14+22C>A	NP_001339703.1:n.*14+22C>A
NM_001352775.2:c.*14+22C>A	NP_001339704.1:n.*14+22C>A
NM_001352776.2:c.*14+22C>A	NP_001339705.1:n.*14+22C>A
NM_001352777.2:c.*14+22C>A	NP_001339706.1:n.*14+22C>A
NM_021991.4:c.*14+22C>A	NP_068831.1:n.*14+22C>A