Canonical Allele Identifier: CA392817149

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64156811T>G , CM000677.2:g.64156811T>G GRCh38
NC_000015.9:g.64449010T>G , CM000677.1:g.64449010T>G GRCh37
NC_000015.8:g.62236063T>G NCBI36
NG_012979.1:g.11345A>C , LRG_10:g.11345A>C
NG_033071.1:g.10095T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000300026.4:c.442A>C (PPIB) MANE Select ENSP00000300026.4:p.Asn148His
ENST00000325881.9:c.*2303T>G (SNX22) MANE Select ENSP00000323435.4:n.*2303T>G
ENST00000561048.2:n.3669A>C (PPIB)
ENST00000680158.1:c.*115A>C (PPIB) ENSP00000504873.1:n.*115A>C
ENST00000680343.1:n.396A>C (PPIB)
ENST00000681397.1:c.442A>C (PPIB) ENSP00000506584.1:p.Asn148His
ENST00000681658.1:c.337A>C (PPIB) ENSP00000505431.1:p.Asn113His
ENST00000300026.3:c.442A>C (PPIB) ENSP00000300026.3:p.Asn148His
ENST00000325881.8:c.*2303T>G (SNX22) ENSP00000323435.4:n.*2303T>G
ENST00000557789.5:n.3043T>G (SNX22)
ENST00000558492.1:n.348A>C (PPIB)
ENST00000560997.1:n.2698T>G (SNX22)
NM_000942.4:c.442A>C , LRG_10t1:c.442A>C (PPIB) NP_000933.1:p.Asn148His
NM_024798.2:c.*2303T>G (SNX22) NP_079074.2:n.*2303T>G
NR_073534.1:n.2991T>G (SNX22)
XM_017022581.1:c.*2303T>G (SNX22) XP_016878070.1:n.*2303T>G
NM_024798.3:c.*2303T>G (SNX22) MANE Select NP_079074.2:n.*2303T>G
NM_000942.5:c.442A>C (PPIB) MANE Select NP_000933.1:p.Asn148His
NR_073534.2:n.2977T>G (SNX22)