Canonical Allele Identifier: CA392817415

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64156868T>G , CM000677.2:g.64156868T>G GRCh38
NC_000015.9:g.64449067T>G , CM000677.1:g.64449067T>G GRCh37
NC_000015.8:g.62236120T>G NCBI36
NG_012979.1:g.11288A>C , LRG_10:g.11288A>C
NG_033071.1:g.10152T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000300026.4:c.385A>C (PPIB) MANE Select ENSP00000300026.4:p.Lys129Gln
ENST00000325881.9:c.*2360T>G (SNX22) MANE Select ENSP00000323435.4:n.*2360T>G
ENST00000561048.2:n.3612A>C (PPIB)
ENST00000680158.1:c.*58A>C (PPIB) ENSP00000504873.1:n.*58A>C
ENST00000680343.1:n.339A>C (PPIB)
ENST00000681397.1:c.385A>C (PPIB) ENSP00000506584.1:p.Lys129Gln
ENST00000681658.1:c.280A>C (PPIB) ENSP00000505431.1:p.Lys94Gln
ENST00000300026.3:c.385A>C (PPIB) ENSP00000300026.3:p.Lys129Gln
ENST00000325881.8:c.*2360T>G (SNX22) ENSP00000323435.4:n.*2360T>G
ENST00000557789.5:n.3100T>G (SNX22)
ENST00000558492.1:n.291A>C (PPIB)
ENST00000560997.1:n.2755T>G (SNX22)
NM_000942.4:c.385A>C , LRG_10t1:c.385A>C (PPIB) NP_000933.1:p.Lys129Gln
NM_024798.2:c.*2360T>G (SNX22) NP_079074.2:n.*2360T>G
NR_073534.1:n.3048T>G (SNX22)
XM_017022581.1:c.*2360T>G (SNX22) XP_016878070.1:n.*2360T>G
NM_024798.3:c.*2360T>G (SNX22) MANE Select NP_079074.2:n.*2360T>G
NM_000942.5:c.385A>C (PPIB) MANE Select NP_000933.1:p.Lys129Gln
NR_073534.2:n.3034T>G (SNX22)