Canonical Allele Identifier: CA2183002774

Linked Data

dbSNP Id: rs1224745976

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64157048G>C , CM000677.2:g.64157048G>C GRCh38
NC_000015.9:g.64449247G>C , CM000677.1:g.64449247G>C GRCh37
NC_000015.8:g.62236300G>C NCBI36
NG_012979.1:g.11108C>G , LRG_10:g.11108C>G
NG_033071.1:g.10332G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300026.4:c.344-139C>G (PPIB) MANE Select ENSP00000300026.4:n.344-139C>G
ENST00000325881.9:c.*2540G>C (SNX22) MANE Select ENSP00000323435.4:n.*2540G>C
ENST00000561048.2:n.3432C>G (PPIB)
ENST00000680158.1:c.*17-139C>G (PPIB) ENSP00000504873.1:n.*17-139C>G
ENST00000680343.1:n.298-139C>G (PPIB)
ENST00000681397.1:c.344-139C>G (PPIB) ENSP00000506584.1:n.344-139C>G
ENST00000681658.1:c.239-139C>G (PPIB) ENSP00000505431.1:n.239-139C>G
ENST00000300026.3:c.344-139C>G (PPIB) ENSP00000300026.3:n.344-139C>G
ENST00000325881.8:c.*2540G>C (SNX22) ENSP00000323435.4:n.*2540G>C
ENST00000557789.5:n.3280G>C (SNX22)
ENST00000558492.1:n.250-139C>G (PPIB)
ENST00000560997.1:n.2935G>C (SNX22)
NM_000942.4:c.344-139C>G , LRG_10t1:c.344-139C>G (PPIB) NP_000933.1:n.344-139C>G
NM_024798.2:c.*2540G>C (SNX22) NP_079074.2:n.*2540G>C
NR_073534.1:n.3228G>C (SNX22)
XM_017022581.1:c.*2540G>C (SNX22) XP_016878070.1:n.*2540G>C
NM_024798.3:c.*2540G>C (SNX22) MANE Select NP_079074.2:n.*2540G>C
NM_000942.5:c.344-139C>G (PPIB) MANE Select NP_000933.1:n.344-139C>G
NR_073534.2:n.3214G>C (SNX22)