Canonical Allele Identifier: CA399493029

Gene: JUP

Linked Data

• ClinVar Variation Id: 892036
• ClinVar RCV Id: RCV001127755 ; RCV001127754
• dbSNP Id: rs370101446
• MyVariant Identifiers: chr17:g.39914719T>G (hg19) ; chr17:g.41758467T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41758467T>G , CM000679.2:g.41758467T>G	GRCh38
NC_000017.10:g.39914719T>G , CM000679.1:g.39914719T>G	GRCh37
NC_000017.9:g.37168245T>G	NCBI36
NG_009090.2:g.33246A>C , LRG_401:g.33246A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393931.8:c.1705A>C MANE Select	ENSP00000377508.3:p.Ile569Leu
ENST00000310706.9:c.1705A>C	ENSP00000311113.5:p.Ile569Leu
ENST00000393930.5:c.1705A>C	ENSP00000377507.1:p.Ile569Leu
ENST00000393931.7:c.1705A>C	ENSP00000377508.3:p.Ile569Leu
ENST00000585793.1:n.303A>C
NM_002230.2:c.1705A>C , LRG_401t2:c.1705A>C	NP_002221.1:p.Ile569Leu
NM_021991.2:c.1705A>C , LRG_401t1:c.1705A>C	NP_068831.1:p.Ile569Leu
XM_006721873.1:c.1705A>C	XP_006721936.1:p.Ile569Leu
XM_006721874.1:c.1705A>C	XP_006721937.1:p.Ile569Leu
XM_006721875.1:c.1705A>C	XP_006721938.1:p.Ile569Leu
XM_006721878.1:c.1705A>C	XP_006721941.1:p.Ile569Leu
XM_011524753.1:c.1705A>C	XP_011523055.1:p.Ile569Leu
XM_011524754.1:c.1705A>C	XP_011523056.1:p.Ile569Leu
XM_011524755.1:c.1705A>C	XP_011523057.1:p.Ile569Leu
XM_011524756.1:c.1705A>C	XP_011523058.1:p.Ile569Leu
XM_011524757.1:c.1705A>C	XP_011523059.1:p.Ile569Leu
XM_011524758.1:c.1705A>C	XP_011523060.1:p.Ile569Leu
NM_001352773.1:c.1705A>C	NP_001339702.1:p.Ile569Leu
NM_001352774.1:c.1705A>C	NP_001339703.1:p.Ile569Leu
NM_001352775.1:c.1705A>C	NP_001339704.1:p.Ile569Leu
NM_001352776.1:c.1705A>C	NP_001339705.1:p.Ile569Leu
NM_001352777.1:c.1705A>C	NP_001339706.1:p.Ile569Leu
NM_002230.3:c.1705A>C	NP_002221.1:p.Ile569Leu
NM_021991.3:c.1705A>C	NP_068831.1:p.Ile569Leu
XM_006721874.3:c.1705A>C	XP_006721937.1:p.Ile569Leu
XM_011524753.2:c.1705A>C	XP_011523055.1:p.Ile569Leu
XM_017024588.2:c.1756A>C	XP_016880077.1:p.Ile586Leu
XM_017024590.1:c.1705A>C	XP_016880079.1:p.Ile569Leu
NM_002230.4:c.1705A>C MANE Select	NP_002221.1:p.Ile569Leu
NM_001352773.2:c.1705A>C	NP_001339702.1:p.Ile569Leu
NM_001352774.2:c.1705A>C	NP_001339703.1:p.Ile569Leu
NM_001352775.2:c.1705A>C	NP_001339704.1:p.Ile569Leu
NM_001352776.2:c.1705A>C	NP_001339705.1:p.Ile569Leu
NM_001352777.2:c.1705A>C	NP_001339706.1:p.Ile569Leu
NM_021991.4:c.1705A>C	NP_068831.1:p.Ile569Leu