Canonical Allele Identifier: CA7608479

Gene: PPIB SNX22

Linked Data

• ClinVar Variation Id: 886217
• ClinVar RCV Id: RCV001118291
• dbSNP Id: rs549542551
• ExAC: 15:64449008 G / A
• gnomAD v2: 15-64449008-G-A
• gnomAD v3: 15-64156809-G-A
• gnomAD v4: 15-64156809-G-A
• MyVariant Identifiers: chr15:g.64449008G>A (hg19) ; chr15:g.64156809G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.64156809G>A , CM000677.2:g.64156809G>A	GRCh38
NC_000015.9:g.64449008G>A , CM000677.1:g.64449008G>A	GRCh37
NC_000015.8:g.62236061G>A	NCBI36
NG_012979.1:g.11347C>T , LRG_10:g.11347C>T
NG_033071.1:g.10093G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000300026.4:c.444C>T (PPIB) MANE Select	ENSP00000300026.4:p.Asn148=
ENST00000325881.9:c.*2301G>A (SNX22) MANE Select	ENSP00000323435.4:n.*2301G>A
ENST00000561048.2:n.3671C>T (PPIB)
ENST00000680158.1:c.*117C>T (PPIB)	ENSP00000504873.1:n.*117C>T
ENST00000680343.1:n.398C>T (PPIB)
ENST00000681397.1:c.444C>T (PPIB)	ENSP00000506584.1:p.Asn148=
ENST00000681658.1:c.339C>T (PPIB)	ENSP00000505431.1:p.Asn113=
ENST00000300026.3:c.444C>T (PPIB)	ENSP00000300026.3:p.Asn148=
ENST00000325881.8:c.*2301G>A (SNX22)	ENSP00000323435.4:n.*2301G>A
ENST00000557789.5:n.3041G>A (SNX22)
ENST00000558492.1:n.350C>T (PPIB)
ENST00000560997.1:n.2696G>A (SNX22)
NM_000942.4:c.444C>T , LRG_10t1:c.444C>T (PPIB)	NP_000933.1:p.Asn148=
NM_024798.2:c.*2301G>A (SNX22)	NP_079074.2:n.*2301G>A
NR_073534.1:n.2989G>A (SNX22)
XM_017022581.1:c.*2301G>A (SNX22)	XP_016878070.1:n.*2301G>A
NM_024798.3:c.*2301G>A (SNX22) MANE Select	NP_079074.2:n.*2301G>A
NM_000942.5:c.444C>T (PPIB) MANE Select	NP_000933.1:p.Asn148=
NR_073534.2:n.2975G>A (SNX22)