Canonical Allele Identifier: CA392816812

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64156741T>A , CM000677.2:g.64156741T>A GRCh38
NC_000015.9:g.64448940T>A , CM000677.1:g.64448940T>A GRCh37
NC_000015.8:g.62235993T>A NCBI36
NG_012979.1:g.11415A>T , LRG_10:g.11415A>T
NG_033071.1:g.10025T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300026.4:c.512A>T (PPIB) MANE Select ENSP00000300026.4:p.Lys171Ile
ENST00000325881.9:c.*2233T>A (SNX22) MANE Select ENSP00000323435.4:n.*2233T>A
ENST00000561048.2:n.3739A>T (PPIB)
ENST00000680158.1:c.*185A>T (PPIB) ENSP00000504873.1:n.*185A>T
ENST00000680343.1:n.466A>T (PPIB)
ENST00000681397.1:c.512A>T (PPIB) ENSP00000506584.1:p.Lys171Ile
ENST00000681658.1:c.407A>T (PPIB) ENSP00000505431.1:p.Lys136Ile
ENST00000300026.3:c.512A>T (PPIB) ENSP00000300026.3:p.Lys171Ile
ENST00000325881.8:c.*2233T>A (SNX22) ENSP00000323435.4:n.*2233T>A
ENST00000557789.5:n.2973T>A (SNX22)
ENST00000560997.1:n.2628T>A (SNX22)
NM_000942.4:c.512A>T , LRG_10t1:c.512A>T (PPIB) NP_000933.1:p.Lys171Ile
NM_024798.2:c.*2233T>A (SNX22) NP_079074.2:n.*2233T>A
NR_073534.1:n.2921T>A (SNX22)
XM_017022581.1:c.*2233T>A (SNX22) XP_016878070.1:n.*2233T>A
NM_024798.3:c.*2233T>A (SNX22) MANE Select NP_079074.2:n.*2233T>A
NM_000942.5:c.512A>T (PPIB) MANE Select NP_000933.1:p.Lys171Ile
NR_073534.2:n.2907T>A (SNX22)