Canonical Allele Identifier: CA392816875

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64156754C>G , CM000677.2:g.64156754C>G GRCh38
NC_000015.9:g.64448953C>G , CM000677.1:g.64448953C>G GRCh37
NC_000015.8:g.62236006C>G NCBI36
NG_012979.1:g.11402G>C , LRG_10:g.11402G>C
NG_033071.1:g.10038C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300026.4:c.499G>C (PPIB) MANE Select ENSP00000300026.4:p.Val167Leu
ENST00000325881.9:c.*2246C>G (SNX22) MANE Select ENSP00000323435.4:n.*2246C>G
ENST00000561048.2:n.3726G>C (PPIB)
ENST00000680158.1:c.*172G>C (PPIB) ENSP00000504873.1:n.*172G>C
ENST00000680343.1:n.453G>C (PPIB)
ENST00000681397.1:c.499G>C (PPIB) ENSP00000506584.1:p.Val167Leu
ENST00000681658.1:c.394G>C (PPIB) ENSP00000505431.1:p.Val132Leu
ENST00000300026.3:c.499G>C (PPIB) ENSP00000300026.3:p.Val167Leu
ENST00000325881.8:c.*2246C>G (SNX22) ENSP00000323435.4:n.*2246C>G
ENST00000557789.5:n.2986C>G (SNX22)
ENST00000560997.1:n.2641C>G (SNX22)
NM_000942.4:c.499G>C , LRG_10t1:c.499G>C (PPIB) NP_000933.1:p.Val167Leu
NM_024798.2:c.*2246C>G (SNX22) NP_079074.2:n.*2246C>G
NR_073534.1:n.2934C>G (SNX22)
XM_017022581.1:c.*2246C>G (SNX22) XP_016878070.1:n.*2246C>G
NM_024798.3:c.*2246C>G (SNX22) MANE Select NP_079074.2:n.*2246C>G
NM_000942.5:c.499G>C (PPIB) MANE Select NP_000933.1:p.Val167Leu
NR_073534.2:n.2920C>G (SNX22)