Canonical Allele Identifier: CA183904

Gene: JUP

Linked Data

• ClinVar Variation Id: 179186
• ClinVar RCV Id: RCV000155972 ; RCV000767104
• dbSNP Id: rs727504695
• gnomAD v3: 17-41758476-C-T
• gnomAD v4: 17-41758476-C-T
• MyVariant Identifiers: chr17:g.39914728C>T (hg19) ; chr17:g.41758476C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41758476C>T , CM000679.2:g.41758476C>T	GRCh38
NC_000017.10:g.39914728C>T , CM000679.1:g.39914728C>T	GRCh37
NC_000017.9:g.37168254C>T	NCBI36
NG_009090.2:g.33237G>A , LRG_401:g.33237G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000393931.8:c.1696G>A MANE Select	ENSP00000377508.3:p.Ala566Thr
ENST00000310706.9:c.1696G>A	ENSP00000311113.5:p.Ala566Thr
ENST00000393930.5:c.1696G>A	ENSP00000377507.1:p.Ala566Thr
ENST00000393931.7:c.1696G>A	ENSP00000377508.3:p.Ala566Thr
ENST00000585793.1:n.294G>A
NM_002230.2:c.1696G>A , LRG_401t2:c.1696G>A	NP_002221.1:p.Ala566Thr
NM_021991.2:c.1696G>A , LRG_401t1:c.1696G>A	NP_068831.1:p.Ala566Thr
XM_006721873.1:c.1696G>A	XP_006721936.1:p.Ala566Thr
XM_006721874.1:c.1696G>A	XP_006721937.1:p.Ala566Thr
XM_006721875.1:c.1696G>A	XP_006721938.1:p.Ala566Thr
XM_006721878.1:c.1696G>A	XP_006721941.1:p.Ala566Thr
XM_011524753.1:c.1696G>A	XP_011523055.1:p.Ala566Thr
XM_011524754.1:c.1696G>A	XP_011523056.1:p.Ala566Thr
XM_011524755.1:c.1696G>A	XP_011523057.1:p.Ala566Thr
XM_011524756.1:c.1696G>A	XP_011523058.1:p.Ala566Thr
XM_011524757.1:c.1696G>A	XP_011523059.1:p.Ala566Thr
XM_011524758.1:c.1696G>A	XP_011523060.1:p.Ala566Thr
NM_001352773.1:c.1696G>A	NP_001339702.1:p.Ala566Thr
NM_001352774.1:c.1696G>A	NP_001339703.1:p.Ala566Thr
NM_001352775.1:c.1696G>A	NP_001339704.1:p.Ala566Thr
NM_001352776.1:c.1696G>A	NP_001339705.1:p.Ala566Thr
NM_001352777.1:c.1696G>A	NP_001339706.1:p.Ala566Thr
NM_002230.3:c.1696G>A	NP_002221.1:p.Ala566Thr
NM_021991.3:c.1696G>A	NP_068831.1:p.Ala566Thr
XM_006721874.3:c.1696G>A	XP_006721937.1:p.Ala566Thr
XM_011524753.2:c.1696G>A	XP_011523055.1:p.Ala566Thr
XM_017024588.2:c.1747G>A	XP_016880077.1:p.Ala583Thr
XM_017024590.1:c.1696G>A	XP_016880079.1:p.Ala566Thr
NM_002230.4:c.1696G>A MANE Select	NP_002221.1:p.Ala566Thr
NM_001352773.2:c.1696G>A	NP_001339702.1:p.Ala566Thr
NM_001352774.2:c.1696G>A	NP_001339703.1:p.Ala566Thr
NM_001352775.2:c.1696G>A	NP_001339704.1:p.Ala566Thr
NM_001352776.2:c.1696G>A	NP_001339705.1:p.Ala566Thr
NM_001352777.2:c.1696G>A	NP_001339706.1:p.Ala566Thr
NM_021991.4:c.1696G>A	NP_068831.1:p.Ala566Thr