Canonical Allele Identifier: CA210846

Linked Data

ClinVar Variation Id: 16926
dbSNP Id: rs121434559

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64156802G>A , CM000677.2:g.64156802G>A GRCh38
NC_000015.9:g.64449001G>A , CM000677.1:g.64449001G>A GRCh37
NC_000015.8:g.62236054G>A NCBI36
NG_012979.1:g.11354C>T , LRG_10:g.11354C>T
NG_033071.1:g.10086G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000300026.4:c.451C>T (PPIB) MANE Select ENSP00000300026.4:p.Gln151Ter
ENST00000325881.9:c.*2294G>A (SNX22) MANE Select ENSP00000323435.4:n.*2294G>A
ENST00000561048.2:n.3678C>T (PPIB)
ENST00000680158.1:c.*124C>T (PPIB) ENSP00000504873.1:n.*124C>T
ENST00000680343.1:n.405C>T (PPIB)
ENST00000681397.1:c.451C>T (PPIB) ENSP00000506584.1:p.Gln151Ter
ENST00000681658.1:c.346C>T (PPIB) ENSP00000505431.1:p.Gln116Ter
ENST00000300026.3:c.451C>T (PPIB) ENSP00000300026.3:p.Gln151Ter
ENST00000325881.8:c.*2294G>A (SNX22) ENSP00000323435.4:n.*2294G>A
ENST00000557789.5:n.3034G>A (SNX22)
ENST00000558492.1:n.357C>T (PPIB)
ENST00000560997.1:n.2689G>A (SNX22)
NM_000942.4:c.451C>T , LRG_10t1:c.451C>T (PPIB) NP_000933.1:p.Gln151Ter
NM_024798.2:c.*2294G>A (SNX22) NP_079074.2:n.*2294G>A
NR_073534.1:n.2982G>A (SNX22)
XM_017022581.1:c.*2294G>A (SNX22) XP_016878070.1:n.*2294G>A
NM_024798.3:c.*2294G>A (SNX22) MANE Select NP_079074.2:n.*2294G>A
NM_000942.5:c.451C>T (PPIB) MANE Select NP_000933.1:p.Gln151Ter
NR_073534.2:n.2968G>A (SNX22)