Canonical Allele Identifier: CA392817214

Linked Data

dbSNP Id: rs2081535666

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64156823C>A , CM000677.2:g.64156823C>A GRCh38
NC_000015.9:g.64449022C>A , CM000677.1:g.64449022C>A GRCh37
NC_000015.8:g.62236075C>A NCBI36
NG_012979.1:g.11333G>T , LRG_10:g.11333G>T
NG_033071.1:g.10107C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300026.4:c.430G>T (PPIB) MANE Select ENSP00000300026.4:p.Gly144Cys
ENST00000325881.9:c.*2315C>A (SNX22) MANE Select ENSP00000323435.4:n.*2315C>A
ENST00000561048.2:n.3657G>T (PPIB)
ENST00000680158.1:c.*103G>T (PPIB) ENSP00000504873.1:n.*103G>T
ENST00000680343.1:n.384G>T (PPIB)
ENST00000681397.1:c.430G>T (PPIB) ENSP00000506584.1:p.Gly144Cys
ENST00000681658.1:c.325G>T (PPIB) ENSP00000505431.1:p.Gly109Cys
ENST00000300026.3:c.430G>T (PPIB) ENSP00000300026.3:p.Gly144Cys
ENST00000325881.8:c.*2315C>A (SNX22) ENSP00000323435.4:n.*2315C>A
ENST00000557789.5:n.3055C>A (SNX22)
ENST00000558492.1:n.336G>T (PPIB)
ENST00000560997.1:n.2710C>A (SNX22)
NM_000942.4:c.430G>T , LRG_10t1:c.430G>T (PPIB) NP_000933.1:p.Gly144Cys
NM_024798.2:c.*2315C>A (SNX22) NP_079074.2:n.*2315C>A
NR_073534.1:n.3003C>A (SNX22)
XM_017022581.1:c.*2315C>A (SNX22) XP_016878070.1:n.*2315C>A
NM_024798.3:c.*2315C>A (SNX22) MANE Select NP_079074.2:n.*2315C>A
NM_000942.5:c.430G>T (PPIB) MANE Select NP_000933.1:p.Gly144Cys
NR_073534.2:n.2989C>A (SNX22)