Canonical Allele Identifier: CA392816849

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64156748A>G , CM000677.2:g.64156748A>G GRCh38
NC_000015.9:g.64448947A>G , CM000677.1:g.64448947A>G GRCh37
NC_000015.8:g.62236000A>G NCBI36
NG_012979.1:g.11408T>C , LRG_10:g.11408T>C
NG_033071.1:g.10032A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300026.4:c.505T>C (PPIB) MANE Select ENSP00000300026.4:p.Phe169Leu
ENST00000325881.9:c.*2240A>G (SNX22) MANE Select ENSP00000323435.4:n.*2240A>G
ENST00000561048.2:n.3732T>C (PPIB)
ENST00000680158.1:c.*178T>C (PPIB) ENSP00000504873.1:n.*178T>C
ENST00000680343.1:n.459T>C (PPIB)
ENST00000681397.1:c.505T>C (PPIB) ENSP00000506584.1:p.Phe169Leu
ENST00000681658.1:c.400T>C (PPIB) ENSP00000505431.1:p.Phe134Leu
ENST00000300026.3:c.505T>C (PPIB) ENSP00000300026.3:p.Phe169Leu
ENST00000325881.8:c.*2240A>G (SNX22) ENSP00000323435.4:n.*2240A>G
ENST00000557789.5:n.2980A>G (SNX22)
ENST00000560997.1:n.2635A>G (SNX22)
NM_000942.4:c.505T>C , LRG_10t1:c.505T>C (PPIB) NP_000933.1:p.Phe169Leu
NM_024798.2:c.*2240A>G (SNX22) NP_079074.2:n.*2240A>G
NR_073534.1:n.2928A>G (SNX22)
XM_017022581.1:c.*2240A>G (SNX22) XP_016878070.1:n.*2240A>G
NM_024798.3:c.*2240A>G (SNX22) MANE Select NP_079074.2:n.*2240A>G
NM_000942.5:c.505T>C (PPIB) MANE Select NP_000933.1:p.Phe169Leu
NR_073534.2:n.2914A>G (SNX22)