Canonical Allele Identifier: CA392816790

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000300026.4:c.520G>A (PPIB) MANE Select ENSP00000300026.4:p.Glu174Lys
ENST00000325881.9:c.*2225C>T (SNX22) MANE Select ENSP00000323435.4:n.*2225C>T
ENST00000561048.2:n.3747G>A (PPIB)
ENST00000680158.1:c.*193G>A (PPIB) ENSP00000504873.1:n.*193G>A
ENST00000680343.1:n.474G>A (PPIB)
ENST00000681397.1:c.520G>A (PPIB) ENSP00000506584.1:p.Glu174Lys
ENST00000681658.1:c.415G>A (PPIB) ENSP00000505431.1:p.Glu139Lys
ENST00000300026.3:c.520G>A (PPIB) ENSP00000300026.3:p.Glu174Lys
ENST00000325881.8:c.*2225C>T (SNX22) ENSP00000323435.4:n.*2225C>T
ENST00000557789.5:n.2965C>T (SNX22)
ENST00000560997.1:n.2620C>T (SNX22)
NM_000942.4:c.520G>A , LRG_10t1:c.520G>A (PPIB) NP_000933.1:p.Glu174Lys
NM_024798.2:c.*2225C>T (SNX22) NP_079074.2:n.*2225C>T
NR_073534.1:n.2913C>T (SNX22)
XM_017022581.1:c.*2225C>T (SNX22) XP_016878070.1:n.*2225C>T
NM_024798.3:c.*2225C>T (SNX22) MANE Select NP_079074.2:n.*2225C>T
NM_000942.5:c.520G>A (PPIB) MANE Select NP_000933.1:p.Glu174Lys
NR_073534.2:n.2899C>T (SNX22)