Canonical Allele Identifier: CA392816836

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64156746A>C , CM000677.2:g.64156746A>C GRCh38
NC_000015.9:g.64448945A>C , CM000677.1:g.64448945A>C GRCh37
NC_000015.8:g.62235998A>C NCBI36
NG_012979.1:g.11410T>G , LRG_10:g.11410T>G
NG_033071.1:g.10030A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300026.4:c.507T>G (PPIB) MANE Select ENSP00000300026.4:p.Phe169Leu
ENST00000325881.9:c.*2238A>C (SNX22) MANE Select ENSP00000323435.4:n.*2238A>C
ENST00000561048.2:n.3734T>G (PPIB)
ENST00000680158.1:c.*180T>G (PPIB) ENSP00000504873.1:n.*180T>G
ENST00000680343.1:n.461T>G (PPIB)
ENST00000681397.1:c.507T>G (PPIB) ENSP00000506584.1:p.Phe169Leu
ENST00000681658.1:c.402T>G (PPIB) ENSP00000505431.1:p.Phe134Leu
ENST00000300026.3:c.507T>G (PPIB) ENSP00000300026.3:p.Phe169Leu
ENST00000325881.8:c.*2238A>C (SNX22) ENSP00000323435.4:n.*2238A>C
ENST00000557789.5:n.2978A>C (SNX22)
ENST00000560997.1:n.2633A>C (SNX22)
NM_000942.4:c.507T>G , LRG_10t1:c.507T>G (PPIB) NP_000933.1:p.Phe169Leu
NM_024798.2:c.*2238A>C (SNX22) NP_079074.2:n.*2238A>C
NR_073534.1:n.2926A>C (SNX22)
XM_017022581.1:c.*2238A>C (SNX22) XP_016878070.1:n.*2238A>C
NM_024798.3:c.*2238A>C (SNX22) MANE Select NP_079074.2:n.*2238A>C
NM_000942.5:c.507T>G (PPIB) MANE Select NP_000933.1:p.Phe169Leu
NR_073534.2:n.2912A>C (SNX22)