Canonical Allele Identifier: CA268418045
Gene: TJP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.29881682C>T , CM000677.2:g.29881682C>T GRCh38
NC_000015.9:g.30173885C>T , CM000677.1:g.30173885C>T GRCh37
NC_000015.8:g.27961177C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356107.11:c.306+74550G>A ENSP00000348416.7:n.306+74550G>A
ENST00000473741.1:n.63+74550G>A
ENST00000558447.1:c.306+74550G>A ENSP00000453334.1:n.306+74550G>A
NM_001301025.1:c.228+74550G>A NP_001287954.1:n.228+74550G>A
XM_005254617.2:c.228+74550G>A XP_005254674.1:n.228+74550G>A
XM_005254619.2:c.228+74550G>A XP_005254676.1:n.228+74550G>A
XM_005254620.2:c.228+74550G>A XP_005254677.1:n.228+74550G>A
XM_005254621.2:c.21+74550G>A XP_005254678.1:n.21+74550G>A
XM_011521972.1:c.228+74550G>A XP_011520274.1:n.228+74550G>A
XM_011521973.1:c.135+74550G>A XP_011520275.1:n.135+74550G>A
XM_011521974.1:c.21+74550G>A XP_011520276.1:n.21+74550G>A
NM_001301025.2:c.306+74550G>A NP_001287954.2:n.306+74550G>A
NM_001355012.1:c.306+74550G>A NP_001341941.1:n.306+74550G>A
XM_005254619.3:c.306+74550G>A XP_005254676.2:n.306+74550G>A
XM_005254620.3:c.306+74550G>A XP_005254677.2:n.306+74550G>A
XM_011521972.2:c.306+74550G>A XP_011520274.2:n.306+74550G>A
XM_017022521.1:c.306+74550G>A XP_016878010.1:n.306+74550G>A
XM_017022522.1:c.306+74550G>A XP_016878011.1:n.306+74550G>A
XM_017022523.1:c.306+74550G>A XP_016878012.1:n.306+74550G>A
XM_017022524.1:c.306+74550G>A XP_016878013.1:n.306+74550G>A
XM_017022531.1:c.-1027+74550G>A XP_016878020.1:n.-1027+74550G>A
NM_001301025.3:c.306+74550G>A NP_001287954.2:n.306+74550G>A
NM_001355012.2:c.306+74550G>A NP_001341941.1:n.306+74550G>A
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