Canonical Allele Identifier: CA392816789

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64156733C>G , CM000677.2:g.64156733C>G GRCh38
NC_000015.9:g.64448932C>G , CM000677.1:g.64448932C>G GRCh37
NC_000015.8:g.62235985C>G NCBI36
NG_012979.1:g.11423G>C , LRG_10:g.11423G>C
NG_033071.1:g.10017C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300026.4:c.520G>C (PPIB) MANE Select ENSP00000300026.4:p.Glu174Gln
ENST00000325881.9:c.*2225C>G (SNX22) MANE Select ENSP00000323435.4:n.*2225C>G
ENST00000561048.2:n.3747G>C (PPIB)
ENST00000680158.1:c.*193G>C (PPIB) ENSP00000504873.1:n.*193G>C
ENST00000680343.1:n.474G>C (PPIB)
ENST00000681397.1:c.520G>C (PPIB) ENSP00000506584.1:p.Glu174Gln
ENST00000681658.1:c.415G>C (PPIB) ENSP00000505431.1:p.Glu139Gln
ENST00000300026.3:c.520G>C (PPIB) ENSP00000300026.3:p.Glu174Gln
ENST00000325881.8:c.*2225C>G (SNX22) ENSP00000323435.4:n.*2225C>G
ENST00000557789.5:n.2965C>G (SNX22)
ENST00000560997.1:n.2620C>G (SNX22)
NM_000942.4:c.520G>C , LRG_10t1:c.520G>C (PPIB) NP_000933.1:p.Glu174Gln
NM_024798.2:c.*2225C>G (SNX22) NP_079074.2:n.*2225C>G
NR_073534.1:n.2913C>G (SNX22)
XM_017022581.1:c.*2225C>G (SNX22) XP_016878070.1:n.*2225C>G
NM_024798.3:c.*2225C>G (SNX22) MANE Select NP_079074.2:n.*2225C>G
NM_000942.5:c.520G>C (PPIB) MANE Select NP_000933.1:p.Glu174Gln
NR_073534.2:n.2899C>G (SNX22)