Canonical Allele Identifier: CA772059743
Gene: JUP HGNC NCBI

Linked Data

dbSNP Id: rs1263942035
MyVariant Identifiers: chr17:g.41755502C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41755502C>G , CM000679.2:g.41755502C>G GRCh38
NC_000017.10:g.39911754C>G , CM000679.1:g.39911754C>G GRCh37
NC_000017.9:g.37165280C>G NCBI36
NG_009090.2:g.36211G>C , LRG_401:g.36211G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393931.8:c.*242G>C MANE Select ENSP00000377508.3:n.*242G>C
ENST00000310706.9:c.*15-70G>C ENSP00000311113.5:n.*15-70G>C
ENST00000393930.5:c.*15-70G>C ENSP00000377507.1:n.*15-70G>C
ENST00000393931.7:c.*242G>C ENSP00000377508.3:n.*242G>C
NM_002230.2:c.*242G>C , LRG_401t2:c.*242G>C NP_002221.1:n.*242G>C
NM_021991.2:c.*15-70G>C , LRG_401t1:c.*15-70G>C NP_068831.1:n.*15-70G>C
XM_006721873.1:c.*15-70G>C XP_006721936.1:n.*15-70G>C
XM_006721874.1:c.*15-70G>C XP_006721937.1:n.*15-70G>C
XM_006721875.1:c.*15-70G>C XP_006721938.1:n.*15-70G>C
XM_006721878.1:c.*15-70G>C XP_006721941.1:n.*15-70G>C
XM_011524753.1:c.*15-70G>C XP_011523055.1:n.*15-70G>C
XM_011524754.1:c.*15-70G>C XP_011523056.1:n.*15-70G>C
XM_011524755.1:c.*15-70G>C XP_011523057.1:n.*15-70G>C
XM_011524756.1:c.*15-70G>C XP_011523058.1:n.*15-70G>C
XM_011524757.1:c.*15-70G>C XP_011523059.1:n.*15-70G>C
XM_011524758.1:c.*15-70G>C XP_011523060.1:n.*15-70G>C
NM_001352773.1:c.*242G>C NP_001339702.1:n.*242G>C
NM_001352774.1:c.*15-70G>C NP_001339703.1:n.*15-70G>C
NM_001352775.1:c.*15-70G>C NP_001339704.1:n.*15-70G>C
NM_001352776.1:c.*15-70G>C NP_001339705.1:n.*15-70G>C
NM_001352777.1:c.*15-70G>C NP_001339706.1:n.*15-70G>C
NM_002230.3:c.*242G>C NP_002221.1:n.*242G>C
NM_021991.3:c.*15-70G>C NP_068831.1:n.*15-70G>C
XM_006721874.3:c.*15-70G>C XP_006721937.1:n.*15-70G>C
XM_011524753.2:c.*15-70G>C XP_011523055.1:n.*15-70G>C
XM_017024588.2:c.*15-70G>C XP_016880077.1:n.*15-70G>C
XM_017024590.1:c.*15-70G>C XP_016880079.1:n.*15-70G>C
NM_002230.4:c.*242G>C MANE Select NP_002221.1:n.*242G>C
NM_001352773.2:c.*242G>C NP_001339702.1:n.*242G>C
NM_001352774.2:c.*15-70G>C NP_001339703.1:n.*15-70G>C
NM_001352775.2:c.*15-70G>C NP_001339704.1:n.*15-70G>C
NM_001352776.2:c.*15-70G>C NP_001339705.1:n.*15-70G>C
NM_001352777.2:c.*15-70G>C NP_001339706.1:n.*15-70G>C
NM_021991.4:c.*15-70G>C NP_068831.1:n.*15-70G>C