Canonical Allele Identifier: CA392817410

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64156866T>G , CM000677.2:g.64156866T>G GRCh38
NC_000015.9:g.64449065T>G , CM000677.1:g.64449065T>G GRCh37
NC_000015.8:g.62236118T>G NCBI36
NG_012979.1:g.11290A>C , LRG_10:g.11290A>C
NG_033071.1:g.10150T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000300026.4:c.387A>C (PPIB) MANE Select ENSP00000300026.4:p.Lys129Asn
ENST00000325881.9:c.*2358T>G (SNX22) MANE Select ENSP00000323435.4:n.*2358T>G
ENST00000561048.2:n.3614A>C (PPIB)
ENST00000680158.1:c.*60A>C (PPIB) ENSP00000504873.1:n.*60A>C
ENST00000680343.1:n.341A>C (PPIB)
ENST00000681397.1:c.387A>C (PPIB) ENSP00000506584.1:p.Lys129Asn
ENST00000681658.1:c.282A>C (PPIB) ENSP00000505431.1:p.Lys94Asn
ENST00000300026.3:c.387A>C (PPIB) ENSP00000300026.3:p.Lys129Asn
ENST00000325881.8:c.*2358T>G (SNX22) ENSP00000323435.4:n.*2358T>G
ENST00000557789.5:n.3098T>G (SNX22)
ENST00000558492.1:n.293A>C (PPIB)
ENST00000560997.1:n.2753T>G (SNX22)
NM_000942.4:c.387A>C , LRG_10t1:c.387A>C (PPIB) NP_000933.1:p.Lys129Asn
NM_024798.2:c.*2358T>G (SNX22) NP_079074.2:n.*2358T>G
NR_073534.1:n.3046T>G (SNX22)
XM_017022581.1:c.*2358T>G (SNX22) XP_016878070.1:n.*2358T>G
NM_024798.3:c.*2358T>G (SNX22) MANE Select NP_079074.2:n.*2358T>G
NM_000942.5:c.387A>C (PPIB) MANE Select NP_000933.1:p.Lys129Asn
NR_073534.2:n.3032T>G (SNX22)