Canonical Allele Identifier: CA10587904

Gene: JUP

Linked Data

• ClinVar Variation Id: 264280
• ClinVar RCV Id: RCV000244622 ; RCV000294325 ; RCV000332980 ; RCV001447540
• dbSNP Id: rs376043057
• gnomAD v4: 17-41757734-C-T
• MyVariant Identifiers: chr17:g.39913986C>T (hg19) ; chr17:g.41757734C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41757734C>T , CM000679.2:g.41757734C>T	GRCh38
NC_000017.10:g.39913986C>T , CM000679.1:g.39913986C>T	GRCh37
NC_000017.9:g.37167512C>T	NCBI36
NG_009090.2:g.33979G>A , LRG_401:g.33979G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393931.8:c.1824G>A MANE Select	ENSP00000377508.3:p.Leu608=
ENST00000310706.9:c.1824G>A	ENSP00000311113.5:p.Leu608=
ENST00000393930.5:c.1824G>A	ENSP00000377507.1:p.Leu608=
ENST00000393931.7:c.1824G>A	ENSP00000377508.3:p.Leu608=
NM_002230.2:c.1824G>A , LRG_401t2:c.1824G>A	NP_002221.1:p.Leu608=
NM_021991.2:c.1824G>A , LRG_401t1:c.1824G>A	NP_068831.1:p.Leu608=
XM_006721873.1:c.1824G>A	XP_006721936.1:p.Leu608=
XM_006721874.1:c.1824G>A	XP_006721937.1:p.Leu608=
XM_006721875.1:c.1824G>A	XP_006721938.1:p.Leu608=
XM_006721878.1:c.1824G>A	XP_006721941.1:p.Leu608=
XM_011524753.1:c.1824G>A	XP_011523055.1:p.Leu608=
XM_011524754.1:c.1824G>A	XP_011523056.1:p.Leu608=
XM_011524755.1:c.1824G>A	XP_011523057.1:p.Leu608=
XM_011524756.1:c.1824G>A	XP_011523058.1:p.Leu608=
XM_011524757.1:c.1824G>A	XP_011523059.1:p.Leu608=
XM_011524758.1:c.1824G>A	XP_011523060.1:p.Leu608=
NM_001352773.1:c.1824G>A	NP_001339702.1:p.Leu608=
NM_001352774.1:c.1824G>A	NP_001339703.1:p.Leu608=
NM_001352775.1:c.1824G>A	NP_001339704.1:p.Leu608=
NM_001352776.1:c.1824G>A	NP_001339705.1:p.Leu608=
NM_001352777.1:c.1824G>A	NP_001339706.1:p.Leu608=
NM_002230.3:c.1824G>A	NP_002221.1:p.Leu608=
NM_021991.3:c.1824G>A	NP_068831.1:p.Leu608=
XM_006721874.3:c.1824G>A	XP_006721937.1:p.Leu608=
XM_011524753.2:c.1824G>A	XP_011523055.1:p.Leu608=
XM_017024588.2:c.1875G>A	XP_016880077.1:p.Leu625=
XM_017024590.1:c.1824G>A	XP_016880079.1:p.Leu608=
NM_002230.4:c.1824G>A MANE Select	NP_002221.1:p.Leu608=
NM_001352773.2:c.1824G>A	NP_001339702.1:p.Leu608=
NM_001352774.2:c.1824G>A	NP_001339703.1:p.Leu608=
NM_001352775.2:c.1824G>A	NP_001339704.1:p.Leu608=
NM_001352776.2:c.1824G>A	NP_001339705.1:p.Leu608=
NM_001352777.2:c.1824G>A	NP_001339706.1:p.Leu608=
NM_021991.4:c.1824G>A	NP_068831.1:p.Leu608=