Canonical Allele Identifier: CA392817219

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64156825G>C , CM000677.2:g.64156825G>C GRCh38
NC_000015.9:g.64449024G>C , CM000677.1:g.64449024G>C GRCh37
NC_000015.8:g.62236077G>C NCBI36
NG_012979.1:g.11331C>G , LRG_10:g.11331C>G
NG_033071.1:g.10109G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000300026.4:c.428C>G (PPIB) MANE Select ENSP00000300026.4:p.Ala143Gly
ENST00000325881.9:c.*2317G>C (SNX22) MANE Select ENSP00000323435.4:n.*2317G>C
ENST00000561048.2:n.3655C>G (PPIB)
ENST00000680158.1:c.*101C>G (PPIB) ENSP00000504873.1:n.*101C>G
ENST00000680343.1:n.382C>G (PPIB)
ENST00000681397.1:c.428C>G (PPIB) ENSP00000506584.1:p.Ala143Gly
ENST00000681658.1:c.323C>G (PPIB) ENSP00000505431.1:p.Ala108Gly
ENST00000300026.3:c.428C>G (PPIB) ENSP00000300026.3:p.Ala143Gly
ENST00000325881.8:c.*2317G>C (SNX22) ENSP00000323435.4:n.*2317G>C
ENST00000557789.5:n.3057G>C (SNX22)
ENST00000558492.1:n.334C>G (PPIB)
ENST00000560997.1:n.2712G>C (SNX22)
NM_000942.4:c.428C>G , LRG_10t1:c.428C>G (PPIB) NP_000933.1:p.Ala143Gly
NM_024798.2:c.*2317G>C (SNX22) NP_079074.2:n.*2317G>C
NR_073534.1:n.3005G>C (SNX22)
XM_017022581.1:c.*2317G>C (SNX22) XP_016878070.1:n.*2317G>C
NM_024798.3:c.*2317G>C (SNX22) MANE Select NP_079074.2:n.*2317G>C
NM_000942.5:c.428C>G (PPIB) MANE Select NP_000933.1:p.Ala143Gly
NR_073534.2:n.2991G>C (SNX22)