Canonical Allele Identifier: CA137178
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 21304
dbSNP Id: rs1126821

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41755893T>A , CM000679.2:g.41755893T>A GRCh38
NC_000017.10:g.39912145T>A , CM000679.1:g.39912145T>A GRCh37
NC_000017.9:g.37165671T>A NCBI36
NG_009090.2:g.35820A>T , LRG_401:g.35820A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000310706.9:c.2089A>T ENSP00000311113.5:p.Met697Leu
ENST00000393930.5:c.2089A>T ENSP00000377507.1:p.Met697Leu
ENST00000393931.7:c.2089A>T ENSP00000377508.3:p.Met697Leu
NM_002230.2:c.2089A>T , LRG_401t2:c.2089A>T NP_002221.1:p.Met697Leu
NM_021991.2:c.2089A>T , LRG_401t1:c.2089A>T NP_068831.1:p.Met697Leu
XM_006721873.1:c.2089A>T XP_006721936.1:p.Met697Leu
XM_006721874.1:c.2089A>T XP_006721937.1:p.Met697Leu
XM_006721875.1:c.2089A>T XP_006721938.1:p.Met697Leu
XM_006721878.1:c.2089A>T XP_006721941.1:p.Met697Leu
XM_011524753.1:c.2089A>T XP_011523055.1:p.Met697Leu
XM_011524754.1:c.2089A>T XP_011523056.1:p.Met697Leu
XM_011524755.1:c.2089A>T XP_011523057.1:p.Met697Leu
XM_011524756.1:c.2089A>T XP_011523058.1:p.Met697Leu
XM_011524757.1:c.2089A>T XP_011523059.1:p.Met697Leu
XM_011524758.1:c.2089A>T XP_011523060.1:p.Met697Leu
NM_001352773.1:c.2089A>T NP_001339702.1:p.Met697Leu
NM_001352774.1:c.2089A>T NP_001339703.1:p.Met697Leu
NM_001352775.1:c.2089A>T NP_001339704.1:p.Met697Leu
NM_001352776.1:c.2089A>T NP_001339705.1:p.Met697Leu
NM_001352777.1:c.2089A>T NP_001339706.1:p.Met697Leu
NM_002230.3:c.2089A>T NP_002221.1:p.Met697Leu
NM_021991.3:c.2089A>T NP_068831.1:p.Met697Leu
XM_006721874.3:c.2089A>T XP_006721937.1:p.Met697Leu
XM_011524753.2:c.2089A>T XP_011523055.1:p.Met697Leu
XM_017024588.2:c.2140A>T XP_016880077.1:p.Met714Leu
XM_017024590.1:c.2089A>T XP_016880079.1:p.Met697Leu
NM_002230.4:c.2089A>T MANE Select NP_002221.1:p.Met697Leu
NM_001352773.2:c.2089A>T NP_001339702.1:p.Met697Leu
NM_001352774.2:c.2089A>T NP_001339703.1:p.Met697Leu
NM_001352775.2:c.2089A>T NP_001339704.1:p.Met697Leu
NM_001352776.2:c.2089A>T NP_001339705.1:p.Met697Leu
NM_001352777.2:c.2089A>T NP_001339706.1:p.Met697Leu
NM_021991.4:c.2089A>T NP_068831.1:p.Met697Leu