Canonical Allele Identifier: CA249033
Gene: PPIB HGNC NCBI
SNX22 HGNC NCBI
COSMIC:
COSM963914
MyVariant.info:
GRCh38 chr15:g.64156105C>T
GRCh37 chr15:g.64448304C>T
Revel Score:
ENST00000300026 (MANE Select) 0.115
gnomAD v2:
15:64448304 C / T
gnomAD v3:
15:64156105 C / T
gnomAD v4:
chr15-64156105-C-T
Joint Max Group AF 0.00165484 (MID)
Genomes Max Group AF 0.00021472 (AMR)
Exomes Max Group AF 0.00160249 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64156105C>T , CM000677.2:g.64156105C>T GRCh38
NC_000015.9:g.64448304C>T , CM000677.1:g.64448304C>T GRCh37
NC_000015.8:g.62235357C>T NCBI36
NG_012979.1:g.12051G>A , LRG_10:g.12051G>A
NG_033071.1:g.9389C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300026.4:c.569G>A (PPIB) MANE Select ENSP00000300026.4:p.Arg190Gln
ENST00000325881.9:c.*1597C>T (SNX22) MANE Select ENSP00000323435.4:n.*1597C>T
ENST00000561048.2:n.3796G>A (PPIB)
ENST00000680158.1:c.*242G>A (PPIB) ENSP00000504873.1:n.*242G>A
ENST00000680343.1:n.523G>A (PPIB)
ENST00000681397.1:c.569G>A (PPIB) ENSP00000506584.1:p.Arg190Gln
ENST00000681658.1:c.464G>A (PPIB) ENSP00000505431.1:p.Arg155Gln
ENST00000300026.3:c.569G>A (PPIB) ENSP00000300026.3:p.Arg190Gln
ENST00000325881.8:c.*1597C>T (SNX22) ENSP00000323435.4:n.*1597C>T
ENST00000557789.5:n.2337C>T (SNX22)
ENST00000560997.1:n.1992C>T (SNX22)
NM_000942.4:c.569G>A , LRG_10t1:c.569G>A (PPIB) NP_000933.1:p.Arg190Gln
NM_024798.2:c.*1597C>T (SNX22) NP_079074.2:n.*1597C>T
NR_073534.1:n.2285C>T (SNX22)
XM_017022581.1:c.*1597C>T (SNX22) XP_016878070.1:n.*1597C>T
NM_024798.3:c.*1597C>T (SNX22) MANE Select NP_079074.2:n.*1597C>T
NM_000942.5:c.569G>A (PPIB) MANE Select NP_000933.1:p.Arg190Gln
NR_073534.2:n.2271C>T (SNX22)
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