Canonical Allele Identifier: CA2581222345

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64156970G>C , CM000677.2:g.64156970G>C GRCh38
NC_000015.9:g.64449169G>C , CM000677.1:g.64449169G>C GRCh37
NC_000015.8:g.62236222G>C NCBI36
NG_012979.1:g.11186C>G , LRG_10:g.11186C>G
NG_033071.1:g.10254G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300026.4:c.344-61C>G (PPIB) MANE Select ENSP00000300026.4:n.344-61C>G
ENST00000325881.9:c.*2462G>C (SNX22) MANE Select ENSP00000323435.4:n.*2462G>C
ENST00000561048.2:n.3510C>G (PPIB)
ENST00000680158.1:c.*17-61C>G (PPIB) ENSP00000504873.1:n.*17-61C>G
ENST00000680343.1:n.298-61C>G (PPIB)
ENST00000681397.1:c.344-61C>G (PPIB) ENSP00000506584.1:n.344-61C>G
ENST00000681658.1:c.239-61C>G (PPIB) ENSP00000505431.1:n.239-61C>G
ENST00000300026.3:c.344-61C>G (PPIB) ENSP00000300026.3:n.344-61C>G
ENST00000325881.8:c.*2462G>C (SNX22) ENSP00000323435.4:n.*2462G>C
ENST00000557789.5:n.3202G>C (SNX22)
ENST00000558492.1:n.250-61C>G (PPIB)
ENST00000560997.1:n.2857G>C (SNX22)
NM_000942.4:c.344-61C>G , LRG_10t1:c.344-61C>G (PPIB) NP_000933.1:n.344-61C>G
NM_024798.2:c.*2462G>C (SNX22) NP_079074.2:n.*2462G>C
NR_073534.1:n.3150G>C (SNX22)
XM_017022581.1:c.*2462G>C (SNX22) XP_016878070.1:n.*2462G>C
NM_024798.3:c.*2462G>C (SNX22) MANE Select NP_079074.2:n.*2462G>C
NM_000942.5:c.344-61C>G (PPIB) MANE Select NP_000933.1:n.344-61C>G
NR_073534.2:n.3136G>C (SNX22)